ClinVar Miner

Submissions for variant NM_005726.6(TSFM):c.10C>T (p.Leu4=)

gnomAD frequency: 0.00003  dbSNP: rs765871977
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001458205 SCV001662021 likely benign not provided 2024-01-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826285 SCV002091701 likely benign Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 2021-06-28 no assertion criteria provided clinical testing

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