ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.41= (p.Ser14=)

gnomAD frequency: 0.02474  dbSNP: rs1553648360
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083715 SCV000650624 benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2024-01-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288142 SCV001475055 benign not specified 2019-11-08 criteria provided, single submitter clinical testing
Leiden Muscular Dystrophy (DAG1) RCV000024443 SCV000045738 not provided not provided 2011-05-13 no assertion provided curation

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