ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1860C>G (p.Ala620=)

dbSNP: rs141522130
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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 RCV002114977 SCV002441459 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2021-06-19 criteria provided, single submitter clinical testing

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