ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.276C>T (p.Asp92=)

gnomAD frequency: 0.00068  dbSNP: rs111670814
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540377 SCV000634473 benign Emery-Dreifuss muscular dystrophy 2024-12-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714051 SCV005278734 benign not provided criteria provided, single submitter not provided

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