ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.235+33T>G

gnomAD frequency: 0.04222  dbSNP: rs41309197
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253882 SCV000312918 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533748 SCV001750537 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533749 SCV001750538 benign Retinitis pigmentosa 76 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001668551 SCV001884052 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668551 SCV005284474 benign not provided criteria provided, single submitter not provided

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