ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) (rs10979599)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236972 SCV000292593 likely benign not specified 2018-01-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,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 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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 RCV000272652 SCV000885608 likely benign Familial dysautonomia 2019-07-25 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000514111 SCV001155706 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000272652 SCV001462225 benign Familial dysautonomia 2020-04-14 no assertion criteria provided clinical testing

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