ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys)

gnomAD frequency: 0.00101  dbSNP: rs144435836
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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) RCV000312982 SCV000338874 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
Invitae RCV001081234 SCV001092287 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000312982 SCV001145986 likely benign not provided 2018-11-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947902 SCV004758359 likely benign SYNE1-related condition 2022-06-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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