ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.24G>A (p.Leu8=)

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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 RCV003048731 SCV003354234 likely benign Cernunnos-XLF deficiency 2022-07-21 criteria provided, single submitter clinical testing

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