ClinVar Miner

Submissions for variant NM_000258.2(MYL3):c.307+15C>T (rs184025552)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220721 SCV000270485 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing c.307+15C>T in intron 3 of MYL3: This variant is not expected to have clinical s ignificance because it is not located within the splice consensus sequence. It h as been identified in 0.1% (4/7020) of European American chromosomes from a broa d population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS;).
Integrated Genetics/Laboratory Corporation of America RCV000586076 SCV000696330 benign not provided 2016-04-14 criteria provided, single submitter clinical testing Variant summary: The c.307+15C>T variant affects a non-conserved intronic nucleotide. One in-silico tool predicts benign outcome for this variant. 5/5 programs in Alamut predict that this variant does not affect normal splicing. This variant is found in 57/120478 control chromosomes at a frequency of 0.0004731, which is about 19 times of the maximal expected frequency of a pathogenic allele (0.000025), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant was classified as Benign.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000603228 SCV000744193 likely benign Familial hypertrophic cardiomyopathy 8 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000603228 SCV000734282 likely benign Familial hypertrophic cardiomyopathy 8 no assertion criteria provided clinical testing

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