ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2587+14C>T

gnomAD frequency: 0.01614  dbSNP: rs141670242
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125407 SCV000168859 benign not specified 2014-04-03 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 Laboratory Services, Illumina RCV000365036 SCV000476561 likely benign Familial dysautonomia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000365036 SCV000743225 likely benign Familial dysautonomia 2014-10-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002055570 SCV001157444 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV002055570 SCV002437184 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000125407 SCV003922910 benign not specified 2023-03-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000365036 SCV001457900 benign Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000125407 SCV001921319 benign not specified no assertion criteria provided clinical testing

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