ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1195G>T (p.Asp399Tyr) (rs61130669)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000449603 SCV000537743 likely pathogenic Myofibrillar myopathy 1 2015-03-16 criteria provided, single submitter clinical testing This variant was inherited from the mother, who has the same symptoms as the patient.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000056779 SCV000087892 not provided not provided no assertion provided not provided

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