ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.2451C>T (p.Thr817=)

gnomAD frequency: 0.00001  dbSNP: rs757299963
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002098291 SCV002388847 likely benign DNA ligase IV deficiency 2023-09-15 criteria provided, single submitter clinical testing

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