ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) (rs370962887)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771379 SCV000903681 benign Cardiomyopathy 2018-04-07 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625033 SCV000744873 likely benign Familial hypertrophic cardiomyopathy 4 2017-06-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625033 SCV000743577 benign Familial hypertrophic cardiomyopathy 4 2017-04-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035647 SCV000059298 benign not specified 2015-06-19 criteria provided, single submitter clinical testing p.Pro186Pro in exon 5 of MYBPC3: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.7% (100/14728) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs370962887).

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