ClinVar Miner

Submissions for variant NM_000268.3(NF2):c.1451T>C (p.Met484Thr) (rs141538143)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571402 SCV000674132 likely benign Hereditary cancer-predisposing syndrome 2017-05-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification,In silico models in agreement (benign)
ITMI RCV000121644 SCV000085842 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000229917 SCV000284547 benign Neurofibromatosis, type 2 2018-01-11 criteria provided, single submitter clinical testing
Mendelics RCV000229917 SCV000839525 uncertain significance Neurofibromatosis, type 2 2018-07-02 criteria provided, single submitter clinical testing

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