ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.1560G>A (p.Leu520=)

gnomAD frequency: 0.00004  dbSNP: rs756164120
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873305 SCV001015273 likely benign DNA ligase IV deficiency 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003396523 SCV004135576 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing LIG4: BP4, BP7

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