ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1209T>C (p.Ser403=)

dbSNP: rs387907400
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001460559 SCV001664436 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2021-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354245 SCV002651952 likely benign Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2021-05-01 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.
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054615 SCV000077305 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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