ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3100-5A>G

dbSNP: rs780522390
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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 RCV001188736 SCV001355872 likely benign Cardiomyopathy 2019-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001479176 SCV001683469 likely benign Hypertrophic cardiomyopathy 2023-12-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003373016 SCV004096141 uncertain significance Cardiovascular phenotype 2023-07-15 criteria provided, single submitter clinical testing The c.3100-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 23 in the MYH7 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.

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