ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.667C>T (p.Leu223=) (rs60156239)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000375590 SCV000335077 benign not specified 2015-09-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352974 SCV000473132 likely benign Charcot-Marie-Tooth disease, type I 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000057146 SCV000563614 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000057146 SCV000842904 benign not provided 2017-11-22 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057146 SCV000088259 not provided not provided no assertion provided not provided
Inherited Neuropathy Consortium RCV000375590 SCV000928963 benign not specified no assertion criteria provided literature only

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