ClinVar Miner

Submissions for variant NM_001927.4(DES):c.264G>C (p.Leu88=)

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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 RCV003788825 SCV004571363 likely benign Desmin-related myofibrillar myopathy 2023-04-08 criteria provided, single submitter clinical testing

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