ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1260C>T (p.Ile420=)

dbSNP: rs397516688
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037229 SCV000060886 likely benign not specified 2011-12-23 criteria provided, single submitter clinical testing Ile420Ile in exon 7 of DES: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Ile420Ile in exon 7 of DES (allele frequency = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV005213197 SCV005851681 likely benign Desmin-related myofibrillar myopathy 2024-07-01 criteria provided, single submitter clinical testing

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