ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.774T>C (p.Asp258=)

gnomAD frequency: 0.00016  dbSNP: rs761633332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001509951 SCV001716867 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940886 SCV004759824 likely benign LIFR-related disorder 2019-11-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001826351 SCV002084272 benign Stuve-Wiedemann syndrome 2020-03-03 no assertion criteria provided clinical testing

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