ClinVar Miner

Submissions for variant NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys) (rs1553253990)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000508644 SCV000320994 pathogenic Fontaine progeroid syndrome criteria provided, single submitter clinical testing The de novo variant was identified at the same protein position as the variant reported as de novo in three independent cases with Petty syndrome.
OMIM RCV000508644 SCV000679989 pathogenic Fontaine progeroid syndrome 2018-01-26 no assertion criteria provided literature only

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