ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1654-8T>G

gnomAD frequency: 0.00002  dbSNP: rs780532724
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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) RCV000712834 SCV000334836 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000340714 SCV000534217 likely benign not specified 2016-11-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000699063 SCV000827758 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 2024-01-10 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712834 SCV000843369 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing

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