ClinVar Miner

Submissions for variant NM_033071.3(SYNE1):c.4520T>A (p.Ile1507Asn) (rs746438011)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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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