ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.906-7G>T (rs397516079)

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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 RCV000035676 SCV000059327 likely benign not specified 2020-08-12 criteria provided, single submitter clinical testing The c.906-7G>T variant in MYBPC3 is classified as likely benign it has been identified in 0.06% (70/122142) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational splice prediction tools as well as in vitro RNA splicing assays do not predict and impact on splicing (Frisso 2016 PMID: 27834932). ACMG/AMP Criteria applied: BS1, BP4, BP7.
GeneDx RCV000035676 SCV000209459 uncertain significance not specified 2013-11-20 criteria provided, single submitter clinical testing The variant is found in HCM panel(s).
Invitae RCV001083307 SCV000623627 likely benign Hypertrophic cardiomyopathy 2020-11-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625029 SCV000743568 likely benign Familial hypertrophic cardiomyopathy 4 2016-10-27 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625029 SCV000744862 benign Familial hypertrophic cardiomyopathy 4 2017-05-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770373 SCV000901814 uncertain significance Cardiomyopathy 2016-09-21 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000530779 SCV001148282 likely benign not provided 2020-12-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000770373 SCV001357000 likely benign Cardiomyopathy 2019-11-21 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000035676 SCV001922600 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000530779 SCV001954550 likely benign not provided no assertion criteria provided clinical testing

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