ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2309-4C>T

gnomAD frequency: 0.00001  dbSNP: rs942669152
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001326854 SCV001517905 likely benign Hypertrophic cardiomyopathy 2022-12-13 criteria provided, single submitter clinical testing
GeneDx RCV001545359 SCV001764680 likely benign not provided 2020-10-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001806126 SCV002053614 uncertain significance Cardiomyopathy 2023-06-15 criteria provided, single submitter clinical testing This variant causes a C to T nucleotide substitution at the -4 position of intron 23 of the MYBPC3 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYBPC3-related disorders in the literature. This variant has been identified in 2/180278 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.
Ambry Genetics RCV002447377 SCV002734901 uncertain significance Cardiovascular phenotype 2021-07-07 criteria provided, single submitter clinical testing The c.2309-4C>T intronic variant results from a C to T substitution 4 nucleotides upstream from coding exon 24 in the MYBPC3 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV001326854 SCV004832810 uncertain significance Hypertrophic cardiomyopathy 2023-10-23 criteria provided, single submitter clinical testing This variant causes a C to T nucleotide substitution at the -4 position of intron 23 of the MYBPC3 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYBPC3-related disorders in the literature. This variant has been identified in 2/180278 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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