ClinVar Miner

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

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Total submissions: 7
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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 RCV000354856 SCV000372401 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397202 SCV000372402 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315266 SCV000372403 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000857840 SCV000623611 likely benign not provided 2018-09-28 criteria provided, single submitter clinical testing
Color 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

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