ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.947G>A (p.Arg316Gln)

dbSNP: rs140004406
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001815825 SCV002063627 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing GFAP: BS1
Invitae RCV001815825 SCV002362481 likely benign not provided 2023-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040949 SCV004875045 likely benign Inborn genetic diseases 2022-11-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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