ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=)

gnomAD frequency: 0.00232  dbSNP: rs138769395
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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) RCV000374644 SCV000339514 uncertain significance not provided 2016-04-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000402578 SCV000387567 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080395 SCV001014463 benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-01-26 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288055 SCV001474881 benign not specified 2019-09-25 criteria provided, single submitter clinical testing

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