ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.286-5T>C

gnomAD frequency: 0.00004  dbSNP: rs894752417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597387 SCV000703317 uncertain significance not provided 2016-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767362 SCV004578835 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-04-15 criteria provided, single submitter clinical testing

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