ClinVar Miner

Submissions for variant NM_000514.4(GDNF):c.429G>A (p.Arg143=) (rs36010631)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150717 SCV000198135 benign not specified 2013-12-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000150717 SCV000306980 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264072 SCV000457484 likely benign Hirschsprung disease 3 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.

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