ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.183C>T (p.Arg61=)

gnomAD frequency: 0.00001  dbSNP: rs1369561445
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002130905 SCV002445398 likely benign Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2021-08-31 criteria provided, single submitter clinical testing

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