ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6603T>C (p.Asp2201=)

gnomAD frequency: 0.00006  dbSNP: rs199965276
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002128075 SCV002442650 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-12-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999658 SCV005621597 benign not specified 2024-05-23 criteria provided, single submitter clinical testing

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