ClinVar Miner

Submissions for variant NM_016011.4(MECR):c.-39G>C

dbSNP: rs749435497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000626034 SCV000746649 uncertain significance Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 2018-01-16 criteria provided, single submitter clinical testing Compound heterozygous variants, c.830+2dupT and c.-39G>C, were detected in this individual. The c.830+2dupT variant disrupts the splice donor consensus and has previously been reported as disease causing [PMID 27817865]. The c.-39G>C variant lies in the 5
GenomeConnect, ClinGen RCV000626034 SCV000986728 not provided Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities no assertion provided phenotyping only Variant interpretted as Uncertain Significance and reported most recently on 01-16-2018 by Lab or GTR ID 505801. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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