ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.107A>G (p.Asn36Ser) (rs372279458)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001085689 SCV000284538 benign Neurofibromatosis, type 2 2020-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564583 SCV000674122 likely benign Hereditary cancer-predisposing syndrome 2018-12-14 criteria provided, single submitter clinical testing Conflicting evidence;In silico models in agreement (benign);Other data supporting benign classification
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000733228 SCV000861268 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing
GeneDx RCV000733228 SCV001788035 likely benign not provided 2021-03-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29618661, 32150022, 23975423, 25931164, 25925381, 16983642, 15684865, 24728327)
ITMI RCV000121642 SCV000085840 not provided not specified 2013-09-19 no assertion provided reference population

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