ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.105dup (p.Val36fs)

gnomAD frequency: 0.00001  dbSNP: rs1411381518
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000995903 SCV001150295 likely pathogenic Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2018-07-30 criteria provided, single submitter clinical testing
OMIM RCV000995903 SCV001428444 pathogenic Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2020-08-13 no assertion criteria provided literature only

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