ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.373-4C>G

gnomAD frequency: 0.00007  dbSNP: rs2288530
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001129872 SCV001289425 uncertain significance Cardiomyopathy, familial restrictive, 1 2018-07-10 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001129873 SCV001289426 uncertain significance Dilated cardiomyopathy 2A 2018-07-10 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001134901 SCV001294660 uncertain significance Hypertrophic cardiomyopathy 7 2018-07-10 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001134902 SCV001294661 uncertain significance Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 2018-07-10 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color Diagnostics, LLC DBA Color Health RCV001178608 SCV001343091 likely benign Cardiomyopathy 2019-06-13 criteria provided, single submitter clinical testing
Invitae RCV001465278 SCV001669261 likely benign Hypertrophic cardiomyopathy 2023-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000537053 SCV001828937 likely benign not provided 2020-03-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002345286 SCV002621759 benign Cardiovascular phenotype 2022-06-30 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036287 SCV000059939 likely benign not specified 2008-11-05 no assertion criteria provided clinical testing

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