ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18114G>A (p.Ala6038=)

gnomAD frequency: 0.00107  dbSNP: rs149923357
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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) RCV000325622 SCV000345604 likely benign not specified 2016-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000530321 SCV000649073 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-12-18 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000325622 SCV001476994 likely benign not specified 2021-04-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001289275 SCV001502044 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing

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