ClinVar Miner

Submissions for variant NM_016011.5(MECR):c.286T>C (p.Phe96Leu)

gnomAD frequency: 0.83145  dbSNP: rs1128400
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001666207 SCV001883544 benign not provided 2021-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001776271 SCV002014139 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 RCV001666207 SCV002456626 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001666207 SCV005284955 benign not provided criteria provided, single submitter not provided

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