ClinVar Miner

Submissions for variant NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del)

dbSNP: rs1180204613
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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 RCV000754858 SCV000996463 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-Supporting, PP1.
OMIM RCV000754858 SCV000882738 pathogenic Basal ganglia calcification, idiopathic, 7, autosomal recessive 2019-02-08 no assertion criteria provided literature only

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