ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.174A>G (p.Lys58=)

dbSNP: rs1192620115
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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 RCV002214875 SCV002366864 likely benign DNA ligase IV deficiency 2021-08-22 criteria provided, single submitter clinical testing

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