ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.649G>A (p.Ala217Thr)

gnomAD frequency: 0.00065  dbSNP: rs144748043
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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) RCV000725152 SCV000334512 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing
GeneDx RCV000725152 SCV000620094 likely benign not provided 2021-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001081512 SCV000770004 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 2024-01-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000725152 SCV001714480 uncertain significance not provided 2020-10-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000725152 SCV003809756 uncertain significance not provided 2022-07-13 criteria provided, single submitter clinical testing

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