ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2028G>A (p.Thr676=)

gnomAD frequency: 0.00001  dbSNP: rs563112343
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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 RCV000459738 SCV000561361 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022999 SCV001174804 likely benign Nephrolithiasis/nephrocalcinosis 2019-08-22 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.
PreventionGenetics, part of Exact Sciences RCV004554783 SCV004778336 likely benign CASR-related disorder 2021-01-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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