ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.-11C>T

gnomAD frequency: 0.00001  dbSNP: rs762719022
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Total submissions: 2
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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 RCV000770387 SCV000901828 uncertain significance Cardiomyopathy 2016-03-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770387 SCV001349594 uncertain significance Cardiomyopathy 2022-12-12 criteria provided, single submitter clinical testing This variant is located in the 5' untranslated region of the MYBPC3 gene. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 6/225576 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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