ClinVar Miner

Submissions for variant NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) (rs745795470)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000383770 SCV000434867 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000659492 SCV000434868 likely pathogenic Waardenburg syndrome type 4B 2017-04-27 criteria provided, single submitter clinical testing The EDN3 c.293C>A (p.Thr98Lys) variant has been reported in two studies in which it is found in at least four individuals with Waardenburg syndrome, including at least two in a homozygous state, one in a compound heterozygous state, and one in a heterozygous state in whom a second variant was not identified (Pingault et al. 2010; Wu et al. 2016). The p.Thr98Lys variant was absent from 60 controls and is reported at a frequency of 0.00024 in the South Asian population of the Exome Aggregation Consortium. Based on the evidence, the p.Thr98Lys variant is classified as likely pathogenic for Waardenburg syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Center for Human Genetics, Inc RCV000659492 SCV000781309 pathogenic Waardenburg syndrome type 4B 2016-11-01 criteria provided, single submitter clinical testing

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