ClinVar Miner

Submissions for variant NM_001231.5(CASQ1):c.27C>A (p.Pro9=)

gnomAD frequency: 0.00813  dbSNP: rs76394704
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000889536 SCV001033228 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434182 SCV002748040 likely benign Inborn genetic diseases 2022-02-14 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 RCV000889536 SCV005285206 benign not provided criteria provided, single submitter not provided

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