ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe)

gnomAD frequency: 0.00500  dbSNP: rs5346
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000221012 SCV000269068 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Leu107Phe in exon 2 of EDNRB: This variant is not expected to have clinical sign ificance because it has been identified in 1.7% (76/4406) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs5346).
PreventionGenetics, part of Exact Sciences RCV000221012 SCV000302323 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000297140 SCV000384823 uncertain significance Hirschsprung disease, susceptibility to, 2 2018-01-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000897477 SCV001041623 benign not provided 2024-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000897477 SCV001938404 benign not provided 2018-09-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28236341)

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