ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.231G>A (p.Glu77=)

gnomAD frequency: 0.00001  dbSNP: rs760297349
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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 RCV002128807 SCV002456262 likely benign Emery-Dreifuss muscular dystrophy 2022-11-06 criteria provided, single submitter clinical testing

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