ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.40G>A (p.Ala14Thr)

gnomAD frequency: 0.04477  dbSNP: rs34689457
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127202 SCV000170756 benign not specified 2013-10-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000538734 SCV000645951 benign Cernunnos-XLF deficiency 2025-02-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709334 SCV005246533 benign not provided criteria provided, single submitter not provided

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