ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7201-4A>G

dbSNP: rs1556917126
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517264 SCV000613133 uncertain significance not specified 2016-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001438989 SCV001641870 likely benign Duchenne muscular dystrophy 2024-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002376952 SCV002668719 uncertain significance Cardiovascular phenotype 2021-09-29 criteria provided, single submitter clinical testing The c.7201-4A>G intronic variant results from an A to G substitution 4 nucleotides upstream from coding exon 50 in the DMD gene. This nucleotide position is 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.
Revvity Omics, Revvity RCV003144305 SCV003830025 uncertain significance not provided 2020-01-26 criteria provided, single submitter clinical testing

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