ClinVar Miner

Submissions for variant NM_001927.4(DES):c.54C>T (p.Phe18=)

gnomAD frequency: 0.00001  dbSNP: rs1420981881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002093434 SCV002388702 likely benign Desmin-related myofibrillar myopathy 2025-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222388 SCV003916244 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing DES: BP4, BP7

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