ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.481-4G>A (rs754864893)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465095 SCV000562958 likely benign Microcephaly, normal intelligence and immunodeficiency 2020-10-28 criteria provided, single submitter clinical testing
Color Health, Inc RCV000775390 SCV000909722 likely benign Hereditary cancer-predisposing syndrome 2018-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000775390 SCV001184925 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-04 criteria provided, single submitter clinical testing The c.481-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 5 in the NBN gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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