ClinVar Miner

Submissions for variant NM_001927.4(DES):c.720G>A (p.Lys240=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005221644 SCV005863229 likely benign Desmin-related myofibrillar myopathy 2024-10-22 criteria provided, single submitter clinical testing

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