ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8668+1G>A

dbSNP: rs2149256957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782087 SCV002021030 pathogenic not provided 2020-10-29 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001843311 SCV002102480 pathogenic Becker muscular dystrophy 2021-12-29 criteria provided, single submitter clinical testing A hemizygous 5' splice site variation in intron 58 of the DMD gene that affects the invariant GT donor splice site of exon 58 was detected. The observed variant c.8668+1G>A (5' splice site) has not been reported in the 1000 genomes and gnomAD databases. The in-silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species. This variant has previously been reported in a patient with Duchenne muscular dystrophy.

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