ClinVar Miner

Submissions for variant NM_004046.6(ATP5F1A):c.1284+44T>C

gnomAD frequency: 0.00325  dbSNP: rs202177720
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001567059 SCV001790678 likely benign not provided 2019-07-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001567059 SCV005215354 likely benign not provided criteria provided, single submitter not provided

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