ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.-26G>A

gnomAD frequency: 0.00043  dbSNP: rs2070591
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490514 SCV000267300 uncertain significance Hirschsprung disease, susceptibility to, 2 2016-03-18 criteria provided, single submitter reference population
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216068 SCV000269067 benign not specified 2015-05-05 criteria provided, single submitter clinical testing p.Arg82Gln in exon 2 of EDNRB: This variant is not expected to have clinical sig nificance because it has been identified in 1.2% (86/7046) of East Asian chromos omes including 1 homozygote by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs2070591).
Illumina Laboratory Services, Illumina RCV000490514 SCV000384824 likely benign Hirschsprung disease, susceptibility to, 2 2017-04-27 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001705184 SCV000730644 benign not provided 2020-12-08 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17011274, 18162831, 8852660, 21531202, 30098700)
Mendelics RCV000989153 SCV001139369 uncertain significance Waardenburg syndrome type 4A 2019-05-28 criteria provided, single submitter clinical testing

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