ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.1191A>G (p.Pro397=)

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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 RCV003620281 SCV004534375 likely benign DNA ligase IV deficiency 2023-10-29 criteria provided, single submitter clinical testing

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