ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) (rs80356750)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000790836 SCV000227419 pathogenic not provided 2013-08-30 criteria provided, single submitter clinical testing
OMIM RCV000000888 SCV000021038 pathogenic Cutis laxa with osteodystrophy 2008-01-01 no assertion criteria provided literature only
GeneReviews RCV000000888 SCV000041230 pathologic Cutis laxa with osteodystrophy 2010-09-23 no assertion criteria provided curation Converted during submission to Pathogenic.

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