ClinVar Miner

Submissions for variant NM_001277062.2(MFF):c.630C>A (p.Ala210=)

gnomAD frequency: 0.00556  dbSNP: rs140009845
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433374 SCV000521969 benign not specified 2016-02-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062471 SCV002465936 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502518 SCV002813154 likely benign Encephalopathy due to defective mitochondrial and peroxisomal fission 2 2021-08-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002062471 SCV005243408 benign not provided criteria provided, single submitter not provided

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