ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1895+30A>G

gnomAD frequency: 0.05532  dbSNP: rs113174528
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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 RCV000242379 SCV000307102 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533680 SCV001750443 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533681 SCV001750444 benign Retinitis pigmentosa 76 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001668469 SCV001891243 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668469 SCV005284459 benign not provided criteria provided, single submitter not provided

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