ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.649-114T>G

gnomAD frequency: 0.66563  dbSNP: rs10744159
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001553946 SCV001775058 benign Cutis laxa with osteodystrophy 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553947 SCV001775059 benign Wrinkly skin syndrome 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001615308 SCV001833541 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615308 SCV005235053 benign not provided criteria provided, single submitter not provided

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