ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.1509C>G (p.Leu503=)

gnomAD frequency: 0.00001  dbSNP: rs1878402671
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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 RCV002156242 SCV002478289 likely benign DNA ligase IV deficiency 2020-11-22 criteria provided, single submitter clinical testing

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