ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.693G>A (p.Glu231=)

gnomAD frequency: 0.00001  dbSNP: rs1348427911
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004030874 SCV001188088 likely benign Nephrolithiasis/nephrocalcinosis 2019-07-25 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002067692 SCV002403563 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-09-30 criteria provided, single submitter clinical testing

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