ClinVar Miner

Submissions for variant NM_013386.5(SLC25A24):c.650G>A (p.Arg217His) (rs1553253989)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000508607 SCV000320993 pathogenic Fontaine progeroid syndrome 2016-10-04 criteria provided, single submitter clinical testing The variant was identified as de novo in three independent cases with the syndrome and functional studies have shown a likely altered function of the protein.
Fulgent Genetics,Fulgent Genetics RCV000508607 SCV000893168 pathogenic Fontaine progeroid syndrome 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000508607 SCV000679988 pathogenic Fontaine progeroid syndrome 2018-01-26 no assertion criteria provided literature only

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