ClinVar Miner

Submissions for variant NM_004553.6(NDUFS6):c.336C>T (p.Cys112=)

gnomAD frequency: 0.00006  dbSNP: rs149406977
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000977803 SCV001125724 likely benign not provided 2024-12-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271676 SCV001452981 uncertain significance Mitochondrial complex I deficiency 2020-01-10 no assertion criteria provided clinical testing

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