ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1730-7G>A

gnomAD frequency: 0.00054  dbSNP: rs367603152
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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) RCV000385098 SCV000344423 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000385098 SCV001154968 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001289273 SCV001476988 benign not specified 2020-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517379 SCV001725863 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-12-25 criteria provided, single submitter clinical testing

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