ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.735A>G (p.Ala245=)

dbSNP: rs2138978216
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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 RCV001485998 SCV001690447 likely benign DNA ligase IV deficiency 2020-07-07 criteria provided, single submitter clinical testing

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