ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1407G>A (p.Val469=)

gnomAD frequency: 0.00001  dbSNP: rs1273197280
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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 RCV001435627 SCV001638453 likely benign Desmin-related myofibrillar myopathy 2019-09-02 criteria provided, single submitter clinical testing

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