ClinVar Miner

Submissions for variant NM_020975.6(RET):c.341G>A (p.Arg114His) (rs76397662)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163885 SCV000214475 benign Hereditary cancer-predisposing syndrome 2015-11-09 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s);In silico models in agreement (benign);Other data supporting benign classification;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000198261 SCV000252850 benign Multiple endocrine neoplasia, type 2 2019-12-31 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490359 SCV000267473 benign Hirschsprung disease 1 2016-03-18 criteria provided, single submitter reference population
GeneDx RCV000121988 SCV000521034 benign not specified 2017-01-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000755684 SCV000883097 benign Multiple endocrine neoplasia, type 2b 2018-11-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001106778 SCV001263874 likely benign Renal hypodysplasia/aplasia 1 2017-04-28 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.
Illumina Clinical Services Laboratory,Illumina RCV001106779 SCV001263875 benign Multiple endocrine neoplasia 2017-04-28 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001107412 SCV001264555 benign Pheochromocytoma 2017-04-28 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
OMIM RCV000014974 SCV000035230 pathogenic Congenital central hypoventilation 2002-04-01 no assertion criteria provided literature only
ITMI RCV000121988 SCV000086199 not provided not specified 2013-09-19 no assertion provided reference population

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