ClinVar Miner

Submissions for variant NM_020702.5(MYORG):c.1328G>A (p.Trp443Ter)

dbSNP: rs868530644
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000853514 SCV000996469 likely pathogenic Basal ganglia calcification, idiopathic, 7, autosomal recessive 2019-06-13 criteria provided, single submitter curation This variant is interpreted as a Likely pathogenic for Basal ganglia calcification, idiopathic, 7, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PVS1-Strong, PP1.

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