ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.279G>A (p.Ser93=) (rs587780781)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123215 SCV000166520 benign Microcephaly, normal intelligence and immunodeficiency 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000165927 SCV000216682 likely benign Hereditary cancer-predisposing syndrome 2014-09-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Health, Inc RCV000165927 SCV000685769 benign Hereditary cancer-predisposing syndrome 2017-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000604024 SCV000728952 benign not specified 2015-05-08 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.

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