ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.321C>T (p.Leu107=)

gnomAD frequency: 0.00001  dbSNP: rs751434618
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426048 SCV000534002 likely benign not specified 2016-11-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316558 SCV004015818 likely benign DNA ligase IV deficiency 2023-07-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003316558 SCV004520964 likely benign DNA ligase IV deficiency 2023-08-05 criteria provided, single submitter clinical testing

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