ClinVar Miner

Submissions for variant NM_021076.4(NEFH):c.2368_2370del (p.Lys790del)

gnomAD frequency: 0.00091  dbSNP: rs59551486
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000057192 SCV001041071 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000990405 SCV001141384 uncertain significance Amyotrophic lateral sclerosis type 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV000057192 SCV001988756 benign not provided 2021-07-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 7849698, 28430856, 32293029)
Ambry Genetics RCV002453370 SCV002735838 likely benign Inborn genetic diseases 2019-09-26 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.
CeGaT Center for Human Genetics Tuebingen RCV000057192 SCV004154845 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057192 SCV000088305 not provided not provided no assertion provided not provided

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