ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=)

gnomAD frequency: 0.00070  dbSNP: rs111367233
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000305869 SCV000337755 uncertain significance not provided 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV001079063 SCV001017247 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288476 SCV001475605 benign not specified 2020-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000305869 SCV001778885 likely benign not provided 2021-03-29 criteria provided, single submitter clinical testing

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