ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.529+9A>T

gnomAD frequency: 0.00001  dbSNP: rs749513419
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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 RCV001057948 SCV001222477 likely benign Cernunnos-XLF deficiency 2022-11-03 criteria provided, single submitter clinical testing

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