ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1312T>C (p.Leu438=)

dbSNP: rs1304302853
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002119714 SCV002396523 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2021-12-06 criteria provided, single submitter clinical testing

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