ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1539C>T (p.Val513=)

dbSNP: rs1553768122
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002232618 SCV000761060 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2020-03-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025570 SCV002705039 likely benign Nephrolithiasis/nephrocalcinosis 2021-03-04 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.

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