ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.1976G>A (p.Arg659Gln) (rs151138158)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163421 SCV000213964 uncertain significance Hereditary cancer-predisposing syndrome 2015-12-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000547195 SCV000628402 benign Neurofibromatosis, type 1 2017-11-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825676 SCV000967095 benign not specified 2018-04-04 criteria provided, single submitter clinical testing p.Arg659Gln in exon 17 of NF1: This variant is classified as benign because it h as been identified in 0.4% (106/25762) of Finnish chromosomes by the Genome Aggr egation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs151138158). ACMG/AMP Criteria applied: BA1.

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