ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24780G>A (p.Ser8260=)

gnomAD frequency: 0.00004  dbSNP: rs766320378
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878527 SCV001021446 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-08-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003432862 SCV004160503 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing SYNE1: BP4, BP7

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