ClinVar Miner

Submissions for variant NM_004553.6(NDUFS6):c.102G>A (p.Pro34=)

gnomAD frequency: 0.00003  dbSNP: rs763463147
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 RCV000930927 SCV001076587 likely benign not provided 2024-05-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278382 SCV001465393 likely benign Mitochondrial complex I deficiency 2020-10-20 no assertion criteria provided clinical testing

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