ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=)

gnomAD frequency: 0.00068  dbSNP: rs145401144
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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) RCV000365053 SCV000340504 uncertain significance not provided 2016-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082681 SCV001017591 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000365053 SCV001819167 likely benign not provided 2020-05-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001660550 SCV001880803 benign not specified 2021-01-28 criteria provided, single submitter clinical testing

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