ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) (rs5352)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222856 SCV000269066 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ser395Asn in exon 5 of EDNRB: This variant is not expected to have clinical si gnificance because it has been identified in 1.4% (119/8600) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://; dbSNP rs5352).
PreventionGenetics,PreventionGenetics RCV000222856 SCV000302327 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000018118 SCV000384810 uncertain significance Hirschsprung disease 2 2018-03-06 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Laboratory of Human Genetics,Universidade de São Paulo RCV000626404 SCV000678739 likely benign Waardenburg syndrome type 2A 2017-03-01 criteria provided, single submitter research
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000222856 SCV000707740 benign not specified 2017-05-10 criteria provided, single submitter clinical testing
GeneDx RCV000954472 SCV000727101 benign not provided 2019-05-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22995991, 26764160, 27535533, 10874640, 8852659, 21507037)
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659497 SCV000781315 likely benign Waardenburg syndrome type 4A 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000954472 SCV001101107 benign not provided 2020-11-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000954472 SCV001143835 benign not provided 2018-12-29 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV001258252 SCV001435166 benign Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant criteria provided, single submitter research The heterozygous p.Ser305Asn variant, sometimes called p.Ser205Asn or p.Ser295Asn, in EDNRB has been identified in at least 6 individuals with Hirschsprung disease, including 4 relatives from 1 family (PMID: 8852659, 10874640, 22995991). However, this variant does not segregate with disease (PMID: 10874640), and has been identified in >2% of European (Finnish) chromosomes and 5 homozygotes in ExAC ( In summary, this variant meets criteria to be classified as benign for Hirschsprung disease.
OMIM RCV000018118 SCV000038397 risk factor Hirschsprung disease 2 1999-04-01 no assertion criteria provided literature only

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