ClinVar Miner

Submissions for variant NM_021076.4(NEFH):c.1387G>A (p.Glu463Lys)

gnomAD frequency: 0.06827  dbSNP: rs59371099
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625208 SCV000744138 benign Amyotrophic lateral sclerosis type 1 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000057181 SCV001850532 benign not provided 2019-04-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30180840)
Invitae RCV000057181 SCV002383610 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057181 SCV000088294 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625208 SCV000745592 benign Amyotrophic lateral sclerosis type 1 2015-04-28 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001698954 SCV001925514 benign not specified no assertion criteria provided clinical testing

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