ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9027G>A (p.Leu3009=)

gnomAD frequency: 0.00024  dbSNP: rs148486281
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597769 SCV000701741 uncertain significance not provided 2017-09-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087435 SCV001023439 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-09-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000597769 SCV003824663 uncertain significance not provided 2019-06-03 criteria provided, single submitter clinical testing

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