ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.334-3C>A

dbSNP: rs1566658848
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714597 SCV000845307 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714598 SCV000845308 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714599 SCV000845309 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2N 2018-08-07 criteria provided, single submitter clinical testing

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