ClinVar Miner

Submissions for variant NM_000388.4(CASR):c.2482A>C (p.Thr828Pro)

dbSNP: rs794729230
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987312 SCV001136576 likely pathogenic Familial hypocalciuric hypercalcemia 1 2019-05-28 criteria provided, single submitter clinical testing
Mendelics RCV000184051 SCV000236582 likely pathogenic Autosomal dominant hypocalcemia 1 2014-01-03 no assertion criteria provided clinical testing

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