ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.3063G>A (p.Thr1021=)

dbSNP: rs193922440
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029448 SCV000052098 likely benign Familial hypocalciuric hypercalcemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Invitae RCV002054482 SCV002415129 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444442 SCV002753689 likely benign Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2020-11-01 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.

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