ClinVar Miner

Submissions for variant NM_020702.5(MYORG):c.782_783delinsTT

dbSNP: rs1563982307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000754855 SCV000996467 uncertain significance Basal ganglia calcification, idiopathic, 7, autosomal recessive 2019-06-13 criteria provided, single submitter curation This variant is interpreted as a variant of Uncertain significance for Basal ganglia calcification, idiopathic, 7, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PM3.
OMIM RCV000754855 SCV000882735 pathogenic Basal ganglia calcification, idiopathic, 7, autosomal recessive 2019-02-08 no assertion criteria provided literature only

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