ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1128G>C (p.Arg376=) (rs757322524)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548334 SCV000628843 likely benign not provided 2018-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567769 SCV000674143 likely benign Hereditary cancer-predisposing syndrome 2017-09-13 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001414804 SCV001616947 likely benign Neurofibromatosis, type 2 2020-09-15 criteria provided, single submitter clinical testing

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