ClinVar Miner

Submissions for variant NM_004393.6(DAG1):c.498G>A (p.Ser166=)

gnomAD frequency: 0.00001  dbSNP: rs794727500
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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) RCV000724576 SCV000229039 uncertain significance not provided 2015-02-27 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000253204 SCV000306924 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV002516731 SCV003277180 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2022-09-03 criteria provided, single submitter clinical testing

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