ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1152+2T>C

gnomAD frequency: 0.00001  dbSNP: rs1553163335
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674268 SCV000799577 likely pathogenic Muscle eye brain disease 2018-05-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465534 SCV004205988 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2023-05-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584792 SCV005075387 likely pathogenic not provided 2024-06-01 criteria provided, single submitter clinical testing POMGNT1: PVS1:Strong, PM2, PM3:Supporting, PP4
Fulgent Genetics, Fulgent Genetics RCV005019164 SCV005648893 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3; Retinitis pigmentosa 76 2024-04-07 criteria provided, single submitter clinical testing

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