ClinVar Miner

Submissions for variant NM_000258.3(MYL3):c.307+15C>T (rs184025552)

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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 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 ( /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
Illumina Clinical Services Laboratory,Illumina RCV000603228 SCV001309351 uncertain significance Familial hypertrophic cardiomyopathy 8 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
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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