ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2096C>T (p.Thr699Ile)

dbSNP: rs2107649929
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272710 SCV002556757 uncertain significance Autosomal dominant hypocalcemia 1 2021-05-25 criteria provided, single submitter clinical testing

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