ClinVar Miner

Submissions for variant NM_207034.3(EDN3):c.426G>A (p.Ala142=) (rs187049336)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000339538 SCV000434869 benign Hirschsprung disease 4 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000380227 SCV000434870 likely benign Waardenburg syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000615923 SCV000711314 benign not specified 2017-02-16 criteria provided, single submitter clinical testing p.Ala142Ala in exon 3 of EDN3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.9% (74/8652) of E ast Asian chromosomes and 0.2% (38/16512) of South Asian chromsomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNPdbSNP rs1870 49336).
GeneDx RCV000615923 SCV000725225 likely benign not specified 2017-11-24 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.
Invitae RCV000923278 SCV001068747 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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