ClinVar Miner

Submissions for variant NM_182895.5(SCARF2):c.25del (p.Ala9fs)

dbSNP: rs1215759021
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283835 SCV001469259 likely pathogenic Van den Ende-Gupta syndrome 2020-06-07 no assertion criteria provided clinical testing

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