ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.7305A>G (p.Lys2435=) (rs201287021)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163484 SCV000214041 benign Hereditary cancer-predisposing syndrome 2016-03-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign),Synonymous alterations with insufficient evidence to classify as benign,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000197072 SCV000252689 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216616 SCV000269462 benign not specified 2015-02-25 criteria provided, single submitter clinical testing p.Lys2456Lys in exon 50 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 0.5% (45/8654) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs201287021).
GeneDx RCV000216616 SCV000726313 likely benign not specified 2017-12-28 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.

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