ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1710T>C (p.Ala570=)

dbSNP: rs1553282382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005091178 SCV000611748 likely benign Developmental and epileptic encephalopathy, 54 2021-09-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000530792 SCV000637976 likely benign heterogeneous nuclear ribonucleoprotein G, human 2021-09-17 criteria provided, single submitter clinical testing

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