ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12529-12G>A

gnomAD frequency: 0.00027  dbSNP: rs367782368
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252586 SCV000315092 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001705377 SCV000528511 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058378 SCV002394774 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001705377 SCV005227894 likely benign not provided criteria provided, single submitter not provided

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