ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.1056A>G (p.Leu352=) (rs369092711)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217297 SCV000275116 likely benign Hereditary cancer-predisposing syndrome 2015-04-13 criteria provided, single submitter clinical testing
Color RCV000217297 SCV000904189 likely benign Hereditary cancer-predisposing syndrome 2017-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000585958 SCV000983707 likely benign not provided 2018-04-06 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.
Integrated Genetics/Laboratory Corporation of America RCV000585958 SCV000697933 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing Variant summary: The NBN c.1056A>G (p.Leu352Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide, which 5/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts the removal of an ESE binding site, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 1/121364, which does not exceed the estimated maximal expected allele frequency for a pathogenic NBN variant of 1/400 for Nijmegen breakage syndrome or 1/8000 for HBOC. The variant of interest has not been, to our knowledge, reported in affected individuals via publications, although a clinical diagnostic laboratory has classified the variant as "likely benign." Therefore, until additional information becomes available, the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000461307 SCV000562957 likely benign Microcephaly, normal intelligence and immunodeficiency 2017-06-26 criteria provided, single submitter clinical testing

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