ClinVar Miner

Submissions for variant NM_020975.6(RET):c.*1969T>C

gnomAD frequency: 0.04255  dbSNP: rs3026785
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000328614 SCV000362568 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 RCV000380866 SCV000362569 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). 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 RCV000288793 SCV000362570 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 RCV000350648 SCV000362571 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.
Counsyl RCV000662849 SCV000785716 benign Multiple endocrine neoplasia type 2A 2017-11-14 criteria provided, single submitter clinical testing
GeneDx RCV001723569 SCV001950539 benign not provided 2021-05-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16986122)
Breakthrough Genomics, Breakthrough Genomics RCV001723569 SCV005220650 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000014982 SCV000035238 protective Hirschsprung disease, protection against 2007-02-01 no assertion criteria provided literature only

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