ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6438+88106A>G

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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 RCV003146151 SCV003829506 uncertain significance not provided 2022-09-02 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV003226002 SCV003922145 uncertain significance Duchenne muscular dystrophy 2023-05-02 criteria provided, single submitter curation The hemizygous c.6438+88106A>G variant in DMD was identified by our study in 1 individual with Duchenne muscular dystrophy (Broad Institute Rare Genomes Project). The significance of the c.6438+88106A>G variant is uncertain. If you have any additional information about functional evidence or other individuals with this variants in DMD we encourage you to reach out to us.

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