ClinVar Miner

Submissions for variant NM_016011.5(MECR):c.597A>G (p.Ala199=)

gnomAD frequency: 0.85930  dbSNP: rs1062924
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001650330 SCV001866342 benign not provided 2019-01-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776269 SCV002014138 benign Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001650330 SCV002447571 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650330 SCV005284950 benign not provided criteria provided, single submitter not provided

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