ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.969G>A (p.Lys323=)

dbSNP: rs1559959462
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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 RCV000818669 SCV000959294 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2022-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004994053 SCV005550228 likely benign Nephrolithiasis/nephrocalcinosis 2024-11-02 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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