ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.2184C>T (p.Pro728=)

dbSNP: rs1553653579
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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) RCV000598322 SCV000709569 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062108 SCV002391863 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2021-03-14 criteria provided, single submitter clinical testing

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