ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1639G>A (p.Glu547Lys) (rs199669486)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547087 SCV000628857 likely benign Neurofibromatosis, type 2 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573923 SCV000674144 likely benign Hereditary cancer-predisposing syndrome 2020-09-21 criteria provided, single submitter clinical testing Other data supporting benign classification;Subpopulation frequency in support of benign classification
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090278 SCV001245724 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing

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