Submissions for variant NM_020975.6(RET):c.1063+9G>A

gnomAD frequency: 0.00014  dbSNP: rs765463636

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232595	SCV000290527	likely benign	Multiple endocrine neoplasia, type 2	2024-02-01	criteria provided, single submitter	clinical testing
Counsyl	RCV000412024	SCV000489757	uncertain significance	Multiple endocrine neoplasia type 2B	2015-12-09	criteria provided, single submitter	clinical testing
Counsyl	RCV000409561	SCV000489758	uncertain significance	Multiple endocrine neoplasia type 2A	2015-12-09	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454826	SCV000540177	uncertain significance	not specified	2016-06-23	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 1 report in hirschsprung proband, second report classifies as nonpathogenic
Mendelics	RCV000409561	SCV000838376	likely benign	Multiple endocrine neoplasia type 2A	2024-04-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001103996	SCV001260818	likely benign	Hirschsprung disease, susceptibility to, 1	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.
Illumina Laboratory Services, Illumina	RCV001103997	SCV001260819	likely benign	Pheochromocytoma	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.
Illumina Laboratory Services, Illumina	RCV001103998	SCV001260820	likely benign	Renal hypodysplasia/aplasia 1	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.
Illumina Laboratory Services, Illumina	RCV001103999	SCV001260821	likely benign	Multiple endocrine neoplasia	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.
GeneDx	RCV001567894	SCV001791666	likely benign	not provided	2020-11-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22395866, 7704557, 23527089)
Sema4, Sema4	RCV002256169	SCV002529909	uncertain significance	Hereditary cancer-predisposing syndrome	2021-10-11	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000454826	SCV002760463	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001567894	SCV004127591	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	RET: BP4
Ambry Genetics	RCV002256169	SCV004849262	uncertain significance	Hereditary cancer-predisposing syndrome	2015-12-10	criteria provided, single submitter	clinical testing	The c.1063+9G>A intronic alteration consists of a G to A substitution nucleotides after coding exon 5 in the RET gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV004532955	SCV004711266	likely benign	RET-related disorder	2021-11-30	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).