ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.613A>G (p.Met205Val) (rs141629512)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234683 SCV000284554 benign Neurofibromatosis, type 2 2020-12-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455031 SCV000539888 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 2 or 3 probands
Ambry Genetics RCV000565164 SCV000674134 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-20 criteria provided, single submitter clinical testing The p.M205V variant (also known as c.613A>G), located in coding exon 7 of the NF2 gene, results from an A to G substitution at nucleotide position 613. The methionine at codon 205 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mendelics RCV000234683 SCV000839515 uncertain significance Neurofibromatosis, type 2 2018-07-02 criteria provided, single submitter clinical testing
GeneDx RCV001706246 SCV001825051 likely benign not provided 2020-11-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26073919, 16983642, 15635074)

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