ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.2202C>T (p.Ser734=)

gnomAD frequency: 0.00001  dbSNP: rs369333400
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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 RCV002080133 SCV002327467 likely benign DNA ligase IV deficiency 2022-09-01 criteria provided, single submitter clinical testing

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