ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20163C>T (p.Asn6721=)

gnomAD frequency: 0.00009  dbSNP: rs201221147
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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 Inc RCV000713623 SCV000844248 likely benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Invitae RCV001419778 SCV001622039 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-07-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713623 SCV004160525 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing SYNE1: BP4, BP7

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