ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2730C>A (p.Pro910=)

gnomAD frequency: 0.00194  dbSNP: rs34200949
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179297 SCV000231523 benign not specified 2014-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084474 SCV000284791 benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711037 SCV000841357 benign not provided 2017-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000711037 SCV000971165 likely benign not provided 2018-03-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV004020143 SCV001177376 likely benign Nephrolithiasis/nephrocalcinosis 2019-02-26 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.
Sema4, Sema4 RCV002256096 SCV002531534 benign Hereditary cancer-predisposing syndrome 2020-09-01 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000179297 SCV002550435 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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