ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1604+2T>C

dbSNP: rs1553162872
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665812 SCV000789991 likely pathogenic Muscle eye brain disease 2017-03-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV004568495 SCV005052397 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2024-02-26 criteria provided, single submitter clinical testing

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