ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys)

gnomAD frequency: 0.00001  dbSNP: rs148131756
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001579101 SCV001806504 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579102 SCV001806505 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579103 SCV001806506 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579104 SCV001806507 uncertain significance Retinitis pigmentosa 76 2021-07-22 criteria provided, single submitter clinical testing

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