ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9504A>G (p.Leu3168=)

gnomAD frequency: 0.00003  dbSNP: rs1020832262
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001718921 SCV000721391 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001497090 SCV001701806 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-09-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001718921 SCV003826379 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing

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