ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24150C>T (p.His8050=)

gnomAD frequency: 0.00018  dbSNP: rs140259310
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000401314 SCV000337542 uncertain significance not provided 2015-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088905 SCV001019460 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-06-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288480 SCV001475612 benign not specified 2019-12-06 criteria provided, single submitter clinical testing

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