ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.901C>G (p.Pro301Ala)

gnomAD frequency: 0.00013  dbSNP: rs1044746171
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513831 SCV000610072 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000513831 SCV002440103 benign not provided 2023-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367708 SCV002660558 likely benign Inborn genetic diseases 2017-11-06 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.
CeGaT Center for Human Genetics Tuebingen RCV000513831 SCV004162498 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ARID1B: BS2

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