ClinVar Miner

Submissions for variant NM_004553.6(NDUFS6):c.96C>A (p.Val32=)

gnomAD frequency: 0.00311  dbSNP: rs140619622
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000677074 SCV000522906 likely benign not provided 2020-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000677074 SCV001032340 benign not provided 2024-10-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000677074 SCV000802911 likely benign not provided 2016-03-16 no assertion criteria provided clinical testing
Natera, Inc. RCV001833535 SCV002084247 likely benign Mitochondrial complex I deficiency 2019-12-05 no assertion criteria provided clinical testing

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