ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.441G>A (p.Gln147=)

gnomAD frequency: 0.00003  dbSNP: rs202229437
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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 RCV002091062 SCV002390485 benign Cernunnos-XLF deficiency 2023-08-04 criteria provided, single submitter clinical testing

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