ClinVar Miner

Submissions for variant NM_001002755.4(NFU1):c.528G>A (p.Leu176=)

gnomAD frequency: 0.00002  dbSNP: rs368931176
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548596 SCV001768534 likely benign not provided 2020-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072022 SCV002384378 likely benign Multiple mitochondrial dysfunctions syndrome 1 2023-10-13 criteria provided, single submitter clinical testing

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