ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met)

gnomAD frequency: 0.00004  dbSNP: rs199996504
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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) RCV000332507 SCV000337323 likely benign not specified 2017-04-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000332507 SCV000615569 benign not specified 2018-03-20 criteria provided, single submitter clinical testing
Invitae RCV000877712 SCV001020489 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422195 SCV004160554 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing SYNE1: BP4, BS2

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