ClinVar Miner

Submissions for variant NM_004046.6(ATP5F1A):c.483+2T>C

dbSNP: rs1555695396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676989 SCV005370862 uncertain significance not provided 2023-07-27 criteria provided, single submitter clinical testing Canonical splice site variant in a gene for which loss-of-function is not an established mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV000676989 SCV000802816 pathogenic not provided 2017-06-14 no assertion criteria provided clinical testing

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