ClinVar Miner

Submissions for variant NM_207034.2(EDN3):c.-248G>A

gnomAD frequency: 0.00709  dbSNP: rs542818479
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000291263 SCV000434851 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734382 SCV000862517 likely benign not specified 2018-08-07 criteria provided, single submitter clinical testing
GeneDx RCV001590989 SCV001822353 likely benign not provided 2018-12-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23840513)
CeGaT Center for Human Genetics Tuebingen RCV001590989 SCV004150735 benign not provided 2024-07-01 criteria provided, single submitter clinical testing EDN3: BS1, BS2

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