ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1439C>T (p.Thr480Met) (rs145666157)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000361452 SCV000437755 likely benign Neurofibromatosis, type 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000361452 SCV000553669 benign Neurofibromatosis, type 2 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011579 SCV001171916 likely benign Hereditary cancer-predisposing syndrome 2020-09-24 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification;Subpopulation frequency in support of benign classification
Baylor Genetics RCV000361452 SCV001481719 uncertain significance Neurofibromatosis, type 2 2019-07-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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