ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln)

dbSNP: rs752591703
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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 RCV001580766 SCV001810580 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001580769 SCV001810581 uncertain significance Retinitis pigmentosa 76 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001580767 SCV001810582 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001580768 SCV001810583 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2021-07-22 criteria provided, single submitter clinical testing

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