ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.553T>C (p.Ser185Pro)

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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 RCV003492838 SCV003831905 uncertain significance Emery-Dreifuss muscular dystrophy 1, X-linked 2019-11-20 criteria provided, single submitter clinical testing
3billion RCV003147047 SCV003841655 uncertain significance X-linked Emery-Dreifuss muscular dystrophy 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Protein truncation variants are a common disease-causing mechanism. The variant is shared with a similarly affected family member. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.

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