ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.270C>T (p.Asn90=)

dbSNP: rs201944670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000912806 SCV001057925 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029355 SCV002743526 likely benign Nephrolithiasis/nephrocalcinosis 2021-07-20 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 RCV005029531 SCV005657378 likely benign Familial hypocalciuric hypercalcemia 1; Neonatal severe primary hyperparathyroidism; Epilepsy, idiopathic generalized, susceptibility to, 8; Autosomal dominant hypocalcemia 1 2024-06-17 criteria provided, single submitter clinical testing

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