ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.2443A>G (p.Thr815Ala) (rs767895692)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680031 SCV000807470 uncertain significance Stüve-Wiedemann syndrome 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory in trans with a nonsense variant in a 16-year-old male with congenital muscular dystrophy, scoliosis, spasticity, febrile seizures, dysmorphism, short stature, joint contractures, nasal speech, mild dysarthria

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