ClinVar Miner

Submissions for variant NM_013382.5(POMT2):c.652G>A (p.Asp218Asn) (rs140785104)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000178927 SCV000614759 likely benign not specified 2016-11-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178927 SCV000231108 benign not specified 2015-02-12 criteria provided, single submitter clinical testing
GeneDx RCV000178927 SCV000514254 likely benign not specified 2017-10-17 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.
Illumina Clinical Services Laboratory,Illumina RCV000335274 SCV000388983 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000553857 SCV000649945 benign Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2; Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 2018-01-03 criteria provided, single submitter clinical testing

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