ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.219C>T (p.Val73=)

gnomAD frequency: 0.00004  dbSNP: rs145165301
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597188 SCV000705795 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001500510 SCV001705301 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-12-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001662643 SCV001879938 benign not specified 2020-11-24 criteria provided, single submitter clinical testing

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