ClinVar Miner

Submissions for variant NM_001927.4(DES):c.312G>T (p.Thr104=)

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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 RCV003793479 SCV004581362 likely benign Desmin-related myofibrillar myopathy 2023-02-26 criteria provided, single submitter clinical testing

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