ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter)

gnomAD frequency: 0.00001  dbSNP: rs80356758
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000887 SCV000021037 pathogenic Cutis laxa with osteodystrophy 2008-01-01 no assertion criteria provided literature only
GeneReviews RCV000000887 SCV000041233 not provided Cutis laxa with osteodystrophy no assertion provided literature only

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