ClinVar Miner

Submissions for variant NM_024120.5(NDUFAF5):c.678A>C (p.Gly226=)

gnomAD frequency: 0.00001  dbSNP: rs143253877
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
Invitae RCV000935102 SCV001080843 likely benign not provided 2023-11-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276993 SCV001463723 likely benign Leigh syndrome 2019-12-24 no assertion criteria provided clinical testing

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