ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.1724+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005008889 SCV005634184 likely pathogenic Cutis laxa with osteodystrophy; Wrinkly skin syndrome 2024-03-01 criteria provided, single submitter clinical testing

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