ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.924C>T (p.Thr308=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004995313 SCV005566491 uncertain significance Cardiovascular phenotype 2024-09-18 criteria provided, single submitter clinical testing The c.924C>T variant (also known as p.T308T), located in coding exon 9 of the DMD gene, results from a C to T substitution at nucleotide position 924. This nucleotide substitution does not change the amino acid at codon 308. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005110191 SCV005729176 likely benign Duchenne muscular dystrophy 2024-08-30 criteria provided, single submitter clinical testing

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