ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.588C>T (p.His196=)

dbSNP: rs199726326
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439643 SCV000527022 likely benign not specified 2017-02-01 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 RCV002059575 SCV002441854 likely benign Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2024-08-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912714 SCV004745226 likely benign TMEM70-related disorder 2020-01-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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