ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.510C>A (p.Ala170=)

gnomAD frequency: 0.00006  dbSNP: rs147153370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000833235 SCV000974996 likely benign not provided 2018-06-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001087172 SCV001058275 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2024-01-18 criteria provided, single submitter clinical testing

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