ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.355-3T>G

dbSNP: rs1553163972
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Total submissions: 2
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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 RCV000661909 SCV000784231 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661910 SCV000784232 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2018-03-05 criteria provided, single submitter clinical testing

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