ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.714C>T (p.Asp238=)

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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 RCV003785094 SCV004576870 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2023-04-19 criteria provided, single submitter clinical testing

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