ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=)

gnomAD frequency: 0.00002  dbSNP: rs757737346
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713691 SCV000844318 likely benign not provided 2018-05-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532960 SCV003263921 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-10-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000713691 SCV003825321 uncertain significance not provided 2022-06-29 criteria provided, single submitter clinical testing

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