ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.1526T>G (p.Val509Gly)

gnomAD frequency: 0.00002  dbSNP: rs760212304
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594358 SCV000709476 uncertain significance not provided 2017-06-23 criteria provided, single submitter clinical testing
GeneDx RCV000594358 SCV001998864 uncertain significance not provided 2020-01-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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