ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.1524G>A (p.Ala508=)

gnomAD frequency: 0.00142  dbSNP: rs146770286
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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 RCV001523123 SCV001732784 benign Emery-Dreifuss muscular dystrophy 2025-01-21 criteria provided, single submitter clinical testing

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