ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.1564T>C (p.Leu522=)

gnomAD frequency: 0.00001  dbSNP: rs752670480
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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 RCV002218353 SCV002365520 likely benign DNA ligase IV deficiency 2024-01-18 criteria provided, single submitter clinical testing

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