ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys)

dbSNP: rs972657462
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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 RCV001579243 SCV001806702 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 RCV001579244 SCV001806703 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579245 SCV001806704 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579246 SCV001806705 uncertain significance Retinitis pigmentosa 76 2021-07-22 criteria provided, single submitter clinical testing

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