ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.1327-16G>A

gnomAD frequency: 0.00033  dbSNP: rs149092701
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601741 SCV000723001 likely benign not specified 2017-09-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002065290 SCV002494170 benign ALG9 congenital disorder of glycosylation 2023-11-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491267 SCV002802777 likely benign Cutis laxa with osteodystrophy; Wrinkly skin syndrome 2021-09-29 criteria provided, single submitter clinical testing

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