ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4953+4C>T

dbSNP: rs933520031
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191027 SCV001358697 uncertain significance Cardiomyopathy 2023-02-27 criteria provided, single submitter clinical testing This variant causes a C to T nucleotide substitution at the +4 position of intron 34 of the MYH7 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYH7-related disorders in the literature. This variant has not been identified 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.
Fulgent Genetics, Fulgent Genetics RCV002491578 SCV002781913 uncertain significance Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-07-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001191027 SCV004826092 uncertain significance Cardiomyopathy 2023-08-15 criteria provided, single submitter clinical testing This variant causes a C to T nucleotide substitution at the +4 position of intron 34 of the MYH7 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYH7-related disorders in the literature. This variant has not been identified 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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