ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.767A>T (p.Gln256Leu)

gnomAD frequency: 0.01058  dbSNP: rs35270667
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420718 SCV000513931 benign not specified 2015-09-04 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 RCV000552135 SCV000645955 benign Cernunnos-XLF deficiency 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708795 SCV005246522 benign not provided criteria provided, single submitter not provided

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