ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.906C>T (p.Ser302=)

gnomAD frequency: 0.00063  dbSNP: rs201067850
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469064 SCV000561362 benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002383891 SCV001180047 likely benign Inborn genetic diseases; Nephrolithiasis/nephrocalcinosis 2019-04-05 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320658 SCV004024946 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424036 SCV004155404 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing CASR: BP4, BP7

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