ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.1378-6C>T

gnomAD frequency: 0.00001  dbSNP: rs765745520
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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 RCV000921917 SCV001067333 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2024-12-12 criteria provided, single submitter clinical testing

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