ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6108A>T (p.Ile2036=) (rs140733963)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166156 SCV000216929 likely benign Hereditary cancer-predisposing syndrome 2014-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000679404 SCV000808656 likely benign not provided 2018-04-04 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.
Invitae RCV000459995 SCV000554974 likely benign Neurofibromatosis, type 1 2017-12-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000615991 SCV000711561 likely benign not specified 2017-06-06 criteria provided, single submitter clinical testing p.Ile2057Ile in exon 42 of NF1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 8/23934 of Africa n chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadins; dbSNP rs140733963).
PreventionGenetics RCV000679404 SCV000806302 likely benign not provided 2018-01-17 criteria provided, single submitter clinical testing

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