ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.5449G>A (p.Val1817Ile)

gnomAD frequency: 0.00016  dbSNP: rs375250508
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001587932 SCV001817280 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001587932 SCV002475998 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002579470 SCV003528164 likely benign Inborn genetic diseases 2022-09-27 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.
Breakthrough Genomics, Breakthrough Genomics RCV001587932 SCV005264186 likely benign not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005361678 SCV005919651 likely benign Coffin-Siris syndrome 2021-07-30 criteria provided, single submitter research

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