ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.535del (p.Gly178_Leu179insTer)

dbSNP: rs1956462432
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Biology and Genetics, University of Brescia RCV001290336 SCV001478258 pathogenic Cutis laxa with osteodystrophy criteria provided, single submitter clinical testing

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