ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.655C>G (p.Leu219Val)

dbSNP: rs1404281937
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330789 SCV001522592 uncertain significance Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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