ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.294+1G>A

dbSNP: rs80356751
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000889 SCV000021039 pathogenic Wrinkly skin syndrome 2008-01-01 no assertion criteria provided literature only
GeneReviews RCV000020688 SCV000041236 pathologic Cutis laxa with osteodystrophy 2010-09-23 no assertion criteria provided curation Converted during submission to Pathogenic.
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000020688 SCV000891478 pathogenic Cutis laxa with osteodystrophy 2017-12-30 no assertion criteria provided curation

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