ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.42G>A (p.Ala14=)

dbSNP: rs1307549197
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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 RCV002104819 SCV002383563 likely benign Cernunnos-XLF deficiency 2023-10-19 criteria provided, single submitter clinical testing

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