ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.513+45T>G (rs878853220)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV000225043 SCV000268124 pathogenic Emery-Dreifuss muscular dystrophy 2, autosomal dominant 2016-04-26 no assertion criteria provided clinical testing The diagnosis of EDMD for the patient was established based on neuromuscular and cardiac symptoms. This variant segregates in the family, and it was not detected in DNA samples of healthy individuals. Sequencing of the target cDNA fragment revealed the insertion between 2 and 3 exons.

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