ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs)

dbSNP: rs80356756
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000020684 SCV000041231 not provided Cutis laxa with osteodystrophy no assertion provided literature only
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000020684 SCV000891479 likely pathogenic Cutis laxa with osteodystrophy 2017-12-30 no assertion criteria provided curation

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