ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4299G>A (p.Thr1433=)

gnomAD frequency: 0.00002  dbSNP: rs528090478
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001425190 SCV001627813 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-11-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003433152 SCV004162449 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing SYNE1: BP4, BP7

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