ClinVar Miner

Submissions for variant NM_003737.4(DCHS1):c.5851C>A (p.Arg1951Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003233459 SCV003932131 uncertain significance Van Maldergem syndrome 1; Mitral valve prolapse, myxomatous 2 2022-08-04 criteria provided, single submitter clinical testing To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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