ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770373 SCV000901814 uncertain significance Cardiomyopathy 2016-09-21 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625029 SCV000744862 benign Familial hypertrophic cardiomyopathy 4 2017-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000035676 SCV000209459 uncertain significance not specified 2013-11-20 criteria provided, single submitter clinical testing The variant is found in HCM panel(s).
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625029 SCV000743568 likely benign Familial hypertrophic cardiomyopathy 4 2016-10-27 criteria provided, single submitter clinical testing
Invitae RCV000530779 SCV000623627 likely benign Hypertrophic cardiomyopathy 2017-07-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035676 SCV000059327 uncertain significance not specified 2015-07-10 criteria provided, single submitter clinical testing The c.906-7G>T variant in MYBPC3 has been identified by our laboratory in 3 Cauc asian individuals with HCM and in 29/61856 European chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397516079). T his variant is located in the 3' splice region. Computational tools do not sugge st an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.906-7G>T variant is uncertain.

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