ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.808T>G (p.Cys270Gly)

dbSNP: rs2112493238
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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, Cologne University RCV001290338 SCV001478337 uncertain significance Stuve-Wiedemann syndrome 2021-02-01 no assertion criteria provided clinical testing PM2_supporting PP3 PP4 PM3_supporting; the variant was detected in homozygous state (paternal consanguinity)

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