ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.283G>A (p.Asp95Asn) (rs61753720)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000588621 SCV000885815 benign not provided 2018-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000115792 SCV000183950 benign Hereditary cancer-predisposing syndrome 2014-07-24 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000588621 SCV000780920 uncertain significance not provided 2018-02-28 criteria provided, single submitter clinical testing
Color RCV000115792 SCV000685770 likely benign Hereditary cancer-predisposing syndrome 2015-02-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121616 SCV000856761 likely benign not specified 2017-09-28 criteria provided, single submitter clinical testing
GeneDx RCV000121616 SCV000149701 likely benign not specified 2018-01-10 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.
Genetic Services Laboratory, University of Chicago RCV000121616 SCV000248137 uncertain significance not specified 2015-02-26 criteria provided, single submitter clinical testing
ITMI RCV000121616 SCV000085814 not provided not specified 2013-09-19 no assertion provided reference population
Integrated Genetics/Laboratory Corporation of America RCV000588621 SCV000697966 benign not provided 2016-04-18 criteria provided, single submitter clinical testing Variant summary: The variant of interest causes a missense change involving a conserved nucleotide with 3/4 in silico programs (SNPs&GO not captured here due to low reliability index) predict a "deleterious" outcome. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 225/121130 (1/538), which exceeds the predicted maximum expected allele frequency for a pathogenic NBN variant of 1/8000 for HBOC. The variant of interest has been reported in multiple affected individuals (ALL, OvC, BrC) with limited information ie lack of co-occurrence and co-segregation data. In addition, multiple reputable clinical laboratories cite the variant with a classification of "likely benign/benign." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign.
Invitae RCV000123216 SCV000166521 benign Microcephaly, normal intelligence and immunodeficiency 2018-01-06 criteria provided, single submitter clinical testing
Mendelics RCV000123216 SCV000838316 likely benign Microcephaly, normal intelligence and immunodeficiency 2018-07-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000588621 SCV000806433 likely benign not provided 2017-06-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000121616 SCV000601688 likely benign not specified 2017-03-31 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000115792 SCV000788078 likely benign Hereditary cancer-predisposing syndrome 2018-02-14 no assertion criteria provided clinical testing

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