ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24378G>A (p.Glu8126=)

dbSNP: rs754573881
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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 RCV001480031 SCV001684340 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-11-28 criteria provided, single submitter clinical testing

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