ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4499T>A (p.Ile1500Asn)

gnomAD frequency: 0.00001  dbSNP: rs746438011
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003137768 SCV003824029 uncertain significance not provided 2020-11-20 criteria provided, single submitter clinical testing
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV000190464 SCV000245347 likely pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2015-07-01 no assertion criteria provided research

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