ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.2091G>A (p.Thr697=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002629619 SCV003521254 likely benign DNA ligase IV deficiency 2023-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883890 SCV004698358 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing LIG4: BP4, BP7

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