ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1110G>A (p.Val370=)

gnomAD frequency: 0.00027  dbSNP: rs150412204
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085773 SCV000761033 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-11-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000733764 SCV000861861 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325239 SCV001178405 likely benign Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2019-09-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx RCV000733764 SCV002765779 likely benign not provided 2020-10-09 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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