ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.3236A>G (p.Ter1079=)

dbSNP: rs1060504735
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001478545 SCV001682816 likely benign Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1 2016-08-09 criteria provided, single submitter clinical testing

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