ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.396G>A (p.Ser132=)

gnomAD frequency: 0.00012  dbSNP: rs374648086
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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 RCV000533414 SCV000634475 likely benign Emery-Dreifuss muscular dystrophy 2023-12-22 criteria provided, single submitter clinical testing

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