ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6129G>A (p.Lys2043=)

gnomAD frequency: 0.00005  dbSNP: rs1401669271
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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 RCV001500152 SCV001704934 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-09-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004997513 SCV005621144 benign not specified 2023-10-02 criteria provided, single submitter clinical testing

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