ClinVar Miner

Submissions for variant NM_021076.4(NEFH):c.1740C>T (p.Ser580=)

gnomAD frequency: 0.00755  dbSNP: rs114263951
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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 RCV000625209 SCV000744139 likely benign Amyotrophic lateral sclerosis type 1 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000882074 SCV001025292 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000882074 SCV001501844 benign not provided 2023-09-01 criteria provided, single submitter clinical testing NEFH: BP4, BP7, BS1, BS2
GeneDx RCV000882074 SCV002013300 likely benign not provided 2021-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404711 SCV002710250 likely benign Inborn genetic diseases 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625209 SCV000745593 likely benign Amyotrophic lateral sclerosis type 1 2015-06-23 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701127 SCV001917295 benign not specified no assertion criteria provided clinical testing

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