ClinVar Miner

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

gnomAD frequency: 0.00029  dbSNP: rs76397662
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Total submissions: 12
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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 This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000198261 SCV000252850 benign Multiple endocrine neoplasia, type 2 2024-01-30 criteria provided, single submitter clinical testing
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000490359 SCV000267473 benign Hirschsprung disease, susceptibility to, 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 Laboratory Services, 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 Laboratory Services, 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 Laboratory Services, 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.
CeGaT Center for Human Genetics Tuebingen RCV003389668 SCV001500426 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing RET: BP4, BS1
Sema4, Sema4 RCV000163885 SCV002527911 benign Hereditary cancer-predisposing syndrome 2020-04-28 criteria provided, single submitter curation
OMIM RCV000014974 SCV000035230 uncertain significance 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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