ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.513G>C (p.Gly171=)

dbSNP: rs759426248
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840872 SCV000982814 likely benign not provided 2018-03-28 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 RCV002068568 SCV002383376 likely benign Cernunnos-XLF deficiency 2020-12-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000840872 SCV005258869 likely benign not provided criteria provided, single submitter not provided

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