ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1311A>G (p.Ala437=) (rs144628209)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477488 SCV000563483 likely benign Neurofibromatosis, type 2 2020-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570054 SCV000674129 likely benign Hereditary cancer-predisposing syndrome 2017-07-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV001721543 SCV000718437 likely benign not provided 2018-11-21 criteria provided, single submitter clinical testing

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