ClinVar Miner

Submissions for variant NM_000268.3(NF2):c.613A>G (p.Met205Val) (rs141629512)

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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 RCV000565164 SCV000674134 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000234683 SCV000284554 benign Neurofibromatosis, type 2 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455031 SCV000539888 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 2 or 3 probands
Mendelics RCV000234683 SCV000839515 uncertain significance Neurofibromatosis, type 2 2018-07-02 criteria provided, single submitter clinical testing

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