ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.23791-6del

dbSNP: rs757124573
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726294 SCV000343481 uncertain significance not provided 2018-09-11 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000357536 SCV000615635 likely benign not specified 2024-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001411689 SCV001613753 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000726294 SCV001782902 likely benign not provided 2023-03-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV000726294 SCV002497465 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing SYNE1: BP4

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