ClinVar Miner

Submissions for variant NM_006158.5(NEFL):c.1458C>T (p.Ala486=)

gnomAD frequency: 0.00007  dbSNP: rs61726486
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080656 SCV000639657 likely benign Charcot-Marie-Tooth disease type 2E 2023-11-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000057119 SCV000842901 benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057119 SCV000088232 not provided not provided no assertion provided not provided
Inherited Neuropathy Consortium RCV000789604 SCV000928967 uncertain significance not specified no assertion criteria provided literature only

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