ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.888C>T (p.Ser296=)

dbSNP: rs759988398
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728736 SCV000856345 uncertain significance not provided 2017-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868935 SCV002303403 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004026952 SCV002682995 likely benign Nephrolithiasis/nephrocalcinosis 2020-03-16 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.
Fulgent Genetics, Fulgent Genetics RCV005027900 SCV005657396 uncertain significance Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2023-12-27 criteria provided, single submitter clinical testing

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