ClinVar Miner

Submissions for variant NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala)

gnomAD frequency: 0.14527  dbSNP: rs165602
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Total submissions: 7
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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 RCV000625212 SCV000744143 benign Amyotrophic lateral sclerosis type 1 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000057193 SCV001949252 benign not provided 2021-03-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001781392 SCV002026705 benign Charcot-Marie-Tooth disease axonal type 2CC 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV000057193 SCV002447151 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057193 SCV000088306 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625212 SCV000745597 benign Amyotrophic lateral sclerosis type 1 2015-01-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699191 SCV001923909 benign not specified no assertion criteria provided clinical testing

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