ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16038A>G (p.Leu5346=)

gnomAD frequency: 0.00009  dbSNP: rs192936944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730919 SCV000858686 likely benign not specified 2017-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000876445 SCV001019018 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-10-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707407 SCV005227888 likely benign not provided criteria provided, single submitter not provided

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