ClinVar Miner

Submissions for variant NM_006158.4(NEFL):c.227T>C (p.Val76Ala) (rs58907919)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000267478 SCV000473133 likely benign Charcot-Marie-Tooth disease, type I 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000460591 SCV000563621 benign Charcot-Marie-Tooth disease type 2E 2017-11-01 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057128 SCV000088241 not provided not provided no assertion provided not provided
Inherited Neuropathy Consortium RCV000790247 SCV000929643 likely benign not specified no assertion criteria provided literature only

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