ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) (rs397516054)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035636 SCV000059287 likely benign not specified 2012-06-14 criteria provided, single submitter clinical testing Thr167Thr in exon 4 of MYBPC3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. Thr167Thr in exon 4 of MYBPC3 (allele frequ ency = n/a)
Illumina Clinical Services Laboratory,Illumina RCV001094065 SCV000372401 uncertain significance Familial hypertrophic cardiomyopathy 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000397202 SCV000372402 likely benign Left ventricular noncompaction 10 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000354856 SCV000623611 likely benign Hypertrophic cardiomyopathy 2020-11-17 criteria provided, single submitter clinical testing
Color Health, Inc RCV000771813 SCV000904516 likely benign Cardiomyopathy 2018-09-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000857840 SCV001148284 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000035636 SCV001433210 likely benign not specified 2020-01-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000035636 SCV001476564 benign not specified 2020-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000857840 SCV001940788 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28679633)
Human Genetics - Radboudumc,Radboudumc RCV000857840 SCV001958935 likely benign not provided no assertion criteria provided clinical testing

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