ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1726-9A>T

dbSNP: rs747493997
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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) RCV000726355 SCV000344028 uncertain significance not provided 2016-08-04 criteria provided, single submitter clinical testing
GeneDx RCV000378448 SCV000530614 likely benign not specified 2017-04-13 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.
Invitae RCV001445245 SCV001648271 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2023-10-09 criteria provided, single submitter clinical testing

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