ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=)

gnomAD frequency: 0.00173  dbSNP: rs138628147
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000329344 SCV000338033 benign not specified 2015-12-08 criteria provided, single submitter clinical testing
Invitae RCV000549032 SCV000649103 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001718577 SCV000714946 likely benign not provided 2019-11-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000329344 SCV001474838 benign not specified 2020-05-29 criteria provided, single submitter clinical testing

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