ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1111-23C>T

gnomAD frequency: 0.02728  dbSNP: rs2292486
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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 RCV000243209 SCV000312910 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533740 SCV001750529 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533741 SCV001750530 benign Retinitis pigmentosa 76 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001651221 SCV001866392 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651221 SCV005284470 benign not provided criteria provided, single submitter not provided

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