ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.183T>C (p.Val61=)

gnomAD frequency: 0.00007  dbSNP: rs775928044
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175780 SCV000227337 uncertain significance not provided 2015-04-11 criteria provided, single submitter clinical testing
Invitae RCV001081487 SCV001018653 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2023-11-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000175780 SCV004701536 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing DAG1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003977432 SCV004794998 likely benign DAG1-related condition 2019-03-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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