ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.178-11T>C

dbSNP: rs1335578048
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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 RCV002105309 SCV002396603 likely benign Cernunnos-XLF deficiency 2023-08-04 criteria provided, single submitter clinical testing

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