ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2301G>A (p.Glu767=)

gnomAD frequency: 0.00001  dbSNP: rs769706960
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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 RCV001048577 SCV001212590 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-12-23 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268417 SCV002550429 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031517 SCV002731766 likely benign Nephrolithiasis/nephrocalcinosis 2019-11-18 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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