ClinVar Miner

Submissions for variant NM_005726.6(TSFM):c.12G>T (p.Leu4=)

dbSNP: rs773572404
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875687 SCV001018147 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276979 SCV001463677 uncertain significance Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 2020-01-24 no assertion criteria provided clinical testing

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