ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.1695C>T (p.Pro565=)

gnomAD frequency: 0.00004  dbSNP: rs773066265
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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) RCV000332348 SCV000339879 uncertain significance not provided 2016-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001446984 SCV001650040 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2020-04-14 criteria provided, single submitter clinical testing

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