ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1395G>A (p.Arg465=)

dbSNP: rs387907391
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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 RCV001078889 SCV001097850 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-09-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004018972 SCV002701682 likely benign Nephrolithiasis/nephrocalcinosis 2019-12-04 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.
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054616 SCV000077306 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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