ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.*250T>C

gnomAD frequency: 0.39364  dbSNP: rs1050088
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000024448 SCV001872226 benign not provided 2018-06-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496442 SCV002807086 benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2021-08-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000024448 SCV005303536 benign not provided criteria provided, single submitter not provided
Leiden Muscular Dystrophy (DAG1) RCV000024448 SCV000045743 not provided not provided 2011-05-13 no assertion provided curation

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