ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.88_89del (p.Asn30fs) (rs587781718)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129902 SCV000184720 pathogenic Hereditary cancer-predisposing syndrome 2014-02-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Counsyl RCV000411130 SCV000485727 likely pathogenic Microcephaly, normal intelligence and immunodeficiency 2016-02-03 criteria provided, single submitter clinical testing

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