ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser)

gnomAD frequency: 0.00001  dbSNP: rs754653320
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578929 SCV001806288 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 RCV001578930 SCV001806289 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578931 SCV001806290 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2O 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578932 SCV001806291 uncertain significance Retinitis pigmentosa 76 2021-07-22 criteria provided, single submitter clinical testing
Invitae RCV002570817 SCV003258644 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-04 criteria provided, single submitter clinical testing

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