ClinVar Miner

Submissions for variant NM_016011.5(MECR):c.161C>T (p.Pro54Leu)

dbSNP: rs1683215661
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330697 SCV001522453 uncertain significance Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 2019-11-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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