ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.143-5_143-3del

dbSNP: rs778581246
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001516739 SCV001725070 benign not provided 2023-12-27 criteria provided, single submitter clinical testing
GeneDx RCV001516739 SCV002008325 likely benign not provided 2021-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940934 SCV004749331 likely benign LIFR-related disorder 2019-07-12 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. RCV001832698 SCV002084276 likely benign Stuve-Wiedemann syndrome 2020-08-18 no assertion criteria provided clinical testing

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