ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2934C>T (p.Ser978=)

gnomAD frequency: 0.00001  dbSNP: rs773041784
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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 RCV001448770 SCV001651871 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038468 SCV002746093 likely benign Nephrolithiasis/nephrocalcinosis 2019-05-10 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.
PreventionGenetics, part of Exact Sciences RCV004758800 SCV005357255 likely benign CASR-related disorder 2024-05-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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