ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.642G>A (p.Leu214=)

dbSNP: rs774224764
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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 RCV001477910 SCV001682163 likely benign Cernunnos-XLF deficiency 2023-08-02 criteria provided, single submitter clinical testing

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