ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.222C>T (p.Val74=)

gnomAD frequency: 0.00004  dbSNP: rs150727558
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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) RCV000730457 SCV000858193 uncertain significance not provided 2017-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000730457 SCV000982082 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060994 SCV002449266 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2024-10-16 criteria provided, single submitter clinical testing

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