ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1743+8G>T

gnomAD frequency: 0.00304  dbSNP: rs75674611
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002489103 SCV000557487 benign Developmental and epileptic encephalopathy, 54 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001551853 SCV001772445 likely benign not provided 2018-07-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489103 SCV002800351 likely benign Developmental and epileptic encephalopathy, 54 2021-08-04 criteria provided, single submitter clinical testing

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