ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.94-3C>T

gnomAD frequency: 0.00018  dbSNP: rs373907950
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724503 SCV000229024 uncertain significance not provided 2015-02-23 criteria provided, single submitter clinical testing
Invitae RCV001088022 SCV000625988 benign Duchenne muscular dystrophy 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000724503 SCV000714639 likely benign not provided 2018-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444708 SCV002683182 uncertain significance Cardiovascular phenotype 2022-02-24 criteria provided, single submitter clinical testing The c.94-3C>T intronic variant results from a C to T substitution 3 nucleotides upstream from coding exon 3 in the DMD gene. Based on data from gnomAD, the T allele has an overall frequency of 0.006% (12/195631) total alleles studied, with 1 hemizygote observed. The highest observed frequency was 0.059% (11/18602) of African alleles. 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.
PreventionGenetics, part of Exact Sciences RCV004539649 SCV004761163 likely benign DMD-related disorder 2022-02-09 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001271685 SCV001453001 likely benign Dystrophin deficiency 2020-04-11 no assertion criteria provided clinical testing

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