ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)

gnomAD frequency: 0.00218  dbSNP: rs10979599
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000514111 SCV000292593 likely benign not provided 2021-06-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272652 SCV000476562 likely benign Familial dysautonomia 2018-02-13 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514111 SCV000609709 likely benign not provided 2017-06-14 criteria provided, single submitter clinical testing
Invitae RCV000514111 SCV000626015 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000236972 SCV000700566 likely benign not specified 2017-03-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000272652 SCV000743226 likely benign Familial dysautonomia 2016-10-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000514111 SCV000885608 likely benign not provided 2023-09-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514111 SCV001155706 likely benign not provided 2021-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000272652 SCV001653448 likely benign Familial dysautonomia 2021-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461028 SCV002755201 likely benign Inborn genetic diseases 2019-08-30 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.
Natera, Inc. RCV000272652 SCV001462225 benign Familial dysautonomia 2020-04-14 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000514111 SCV001925910 likely benign not provided no assertion criteria provided clinical testing

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