ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.924-10C>T

gnomAD frequency: 0.00258  dbSNP: rs142122657
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081577 SCV000113508 benign not specified 2012-10-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081577 SCV000248594 likely benign not specified 2014-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000081577 SCV000519996 likely benign not specified 2017-12-26 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 RCV000553099 SCV000649948 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 2024-01-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000081577 SCV001475409 benign not specified 2020-07-17 criteria provided, single submitter clinical testing

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