ClinVar Miner

Submissions for variant NM_015374.3(SUN2):c.247A>C (p.Arg83=)

dbSNP: rs1474913633
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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 RCV000636892 SCV000758334 likely benign Emery-Dreifuss muscular dystrophy 2022-07-05 criteria provided, single submitter clinical testing

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