ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.606C>T (p.Cys202=)

dbSNP: rs2106320164
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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 RCV001439144 SCV001642028 likely benign Cernunnos-XLF deficiency 2019-02-23 criteria provided, single submitter clinical testing

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