ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.45C>T (p.Asp15=)

gnomAD frequency: 0.00005  dbSNP: rs146335558
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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 RCV001975091 SCV002240922 likely benign Emery-Dreifuss muscular dystrophy 2023-11-03 criteria provided, single submitter clinical testing

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