ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=)

gnomAD frequency: 0.00026  dbSNP: rs140118684
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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) RCV000594560 SCV000704250 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
Invitae RCV000647702 SCV000769500 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-10-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288820 SCV001476191 benign not specified 2020-05-07 criteria provided, single submitter clinical testing

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