ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2712C>T (p.Gly904=)

dbSNP: rs1027208202
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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 RCV000891329 SCV001035141 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028405 SCV003858284 likely benign Nephrolithiasis/nephrocalcinosis 2023-02-06 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.
Genetic Services Laboratory, University of Chicago RCV003151188 SCV003839314 likely benign not specified 2022-12-13 no assertion criteria provided clinical testing

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