ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3337-2_3337delinsCAGA

dbSNP: rs1892420744
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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 RCV001188217 SCV001355233 uncertain significance Cardiomyopathy 2019-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480623 SCV002793758 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 2021-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163462 SCV003855326 uncertain significance Cardiovascular phenotype 2022-12-05 criteria provided, single submitter clinical testing The c.3337-2_3337delAGGinsCAGA variant results from a deletion of 3 nucleotides and insertion of 4 nucleotides between positions c.3337-2 and c.3337. This variant impacts the first base pair of coding exon 25, but does not impact the canonical splice acceptor site before coding exon 25 of the MYH7 gene. This nucleotide region is highly conserved in available vertebrate species. Using the BDGP splice site prediction tool, this alteration does not have any significant effect on the native acceptor splice site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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