ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.1136_1137del (p.Tyr379fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genetics, Dept of Pediatrics, All India Institute of Medical Sciences RCV003234960 SCV003934899 likely pathogenic Stüve-Wiedemann syndrome 1 2023-06-15 criteria provided, single submitter research

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