ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24225A>T (p.Ala8075=)

dbSNP: rs910415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993166 SCV001145942 likely benign not provided 2018-12-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549832 SCV003002780 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-12-24 criteria provided, single submitter clinical testing

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