ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21474G>A (p.Leu7158=)

gnomAD frequency: 0.00003  dbSNP: rs370065996
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422148 SCV000530209 likely benign not provided 2020-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000647714 SCV000769512 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-09-27 criteria provided, single submitter clinical testing

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