ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.2352+14A>T

gnomAD frequency: 0.02263  dbSNP: rs57080269
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001707980 SCV001935516 benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002539718 SCV002429879 benign Developmental and epileptic encephalopathy, 54 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001707980 SCV005283085 benign not provided criteria provided, single submitter not provided

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