ClinVar Miner

Submissions for variant NM_001397406.1(FDX2):c.159T>G (p.Ala53=)

gnomAD frequency: 0.52347  dbSNP: rs378395
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423979 SCV000517717 benign not specified 2015-12-04 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 RCV001523339 SCV001733033 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702465 SCV001933414 benign Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001523339 SCV005311939 benign not provided criteria provided, single submitter not provided

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