ClinVar Miner

Submissions for variant NM_000258.2(MYL3):c.130-14G>T (rs192329378)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036017 SCV000059669 likely benign not specified 2012-08-07 criteria provided, single submitter clinical testing 130-14G>T in intron 01 of MYL3: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (31/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS/). 130-14G>T in intron 01 of MYL3 (allele frequenc y = 0.4%, 31/7020) **
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000608393 SCV000743155 benign Familial hypertrophic cardiomyopathy 8 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000608393 SCV000744194 benign Familial hypertrophic cardiomyopathy 8 2015-09-21 criteria provided, single submitter clinical testing
Color RCV000771130 SCV000902900 benign Cardiomyopathy 2018-03-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608393 SCV000734283 likely benign Familial hypertrophic cardiomyopathy 8 no assertion criteria provided clinical testing

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