ClinVar Miner

Submissions for variant NM_001927.4(DES):c.912C>T (p.Thr304=)

gnomAD frequency: 0.00001  dbSNP: rs778826152
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532156 SCV000654186 likely benign Desmin-related myofibrillar myopathy 2025-01-02 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171069 SCV001333739 benign Cardiomyopathy 2018-04-13 criteria provided, single submitter clinical testing

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