ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20070G>A (p.Thr6690=)

dbSNP: rs141263831
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647723 SCV000769521 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-12-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV005000455 SCV005622296 likely benign not specified 2023-11-20 criteria provided, single submitter clinical testing

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