ClinVar Miner

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

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Total submissions: 2
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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 4 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Human Genetics, Inc,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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