ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1150-4T>A

gnomAD frequency: 0.00001  dbSNP: rs794727031
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724107 SCV000225329 uncertain significance not provided 2014-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000174091 SCV000526271 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001451060 SCV001654679 likely benign Duchenne muscular dystrophy 2024-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453608 SCV002614225 uncertain significance Cardiovascular phenotype 2021-09-07 criteria provided, single submitter clinical testing The c.1150-4T>A intronic variant results from a T to A substitution 4 nucleotides upstream from coding exon 11 in the DMD gene. Based on data from gnomAD, the A allele has an overall frequency of 0.001097% (2/182391) total alleles studied, with 1 hemizygote(s) observed. The highest observed frequency was 0.006318% (1/15827) of European (Finnish) alleles. 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.
Natera, Inc. RCV001826874 SCV002090402 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2018-05-04 no assertion criteria provided clinical testing

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