ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.501C>G (p.Val167=)

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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 RCV002786699 SCV003033507 likely benign Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2022-02-21 criteria provided, single submitter clinical testing

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