ClinVar Miner

Submissions for variant NM_003754.3(EIF3F):c.671C>T (p.Pro224Leu)

dbSNP: rs1185010700
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001270450 SCV001450540 likely pathogenic Intellectual developmental disorder, autosomal recessive 67 no assertion criteria provided clinical testing

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