ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.543G>A (p.Pro181=) (rs139838280)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632666 SCV000753852 likely benign Neurofibromatosis, type 2 2020-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024110 SCV001186069 likely benign Hereditary cancer-predisposing syndrome 2019-07-22 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV001662676 SCV001880561 likely benign not specified 2020-09-14 criteria provided, single submitter clinical testing

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