ClinVar Miner

Submissions for variant NM_021076.4(NEFH):c.2784A>G (p.Val928=)

gnomAD frequency: 0.80626  dbSNP: rs165625
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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 RCV000625213 SCV000744144 benign Amyotrophic lateral sclerosis type 1 2015-09-21 criteria provided, single submitter clinical testing
GeneDx RCV000057195 SCV001890129 benign not provided 2021-03-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001781393 SCV002026706 benign Charcot-Marie-Tooth disease axonal type 2CC 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV000057195 SCV002348022 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057195 SCV000088308 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625213 SCV000745598 benign Amyotrophic lateral sclerosis type 1 2015-01-08 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699114 SCV001924311 benign not specified no assertion criteria provided clinical testing

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