ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.42G>A (p.Leu14=)

gnomAD frequency: 0.00004  dbSNP: rs747372086
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605438 SCV000724310 likely benign not specified 2017-11-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000878540 SCV001021461 likely benign Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2023-12-21 criteria provided, single submitter clinical testing

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