The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- See Evidence submitted by expert panel for details.
Variant: NM_005633.3(SOS1):c.2167+6T>G
CA136097
45350 (ClinVar)
Gene: SOS1
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 5b21bf7e-ed81-44bc-8bb2-e27420a0d015
Approved on: 2017-04-18
Published on: 2018-12-10
HGVS expressions
NM_005633.3:c.2167+6T>G
NM_005633.3(SOS1):c.2167+6T>G
ENST00000395038.6:c.2167+6T>G
ENST00000402219.6:c.2167+6T>G
ENST00000426016.5:c.2167+6T>G
NC_000002.12:g.39013454A>C
CM000664.2:g.39013454A>C
NC_000002.11:g.39240595A>C
CM000664.1:g.39240595A>C
NC_000002.10:g.39094099A>C
NG_007530.1:g.112010T>G
Evidence submitted by expert panel
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