ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.36A>G (p.Pro12=)

gnomAD frequency: 0.00078  dbSNP: rs138515231
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522024 SCV001731485 benign Cernunnos-XLF deficiency 2020-10-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709007 SCV005246534 benign not provided criteria provided, single submitter not provided

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