ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6856_6858del (p.Lys2286del) (rs587782819)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132393 SCV000187485 likely pathogenic Hereditary cancer-predisposing syndrome 2014-11-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Last nucleotide of exon,Moderate segregation with disease (at least 3 informative meioses) for rare diseases.,Rarity in general population databases (dbsnp, esp, 1000 genomes)

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