ClinVar Miner

Submissions for variant NM_005726.6(TSFM):c.726G>A (p.Thr242=)

gnomAD frequency: 0.00019  dbSNP: rs140461538
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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 RCV000916312 SCV001061548 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274491 SCV001458720 likely benign Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 2020-09-16 no assertion criteria provided clinical testing

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