ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.25092G>A (p.Pro8364=)

gnomAD frequency: 0.00009  dbSNP: rs374755363
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001460820 SCV001664701 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-06-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000876577 SCV003824713 likely benign not provided 2023-10-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004997448 SCV005621873 likely benign not specified 2024-11-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000876577 SCV005910505 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing SYNE1: BP4, BP7

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