ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.143-37GT[12]

dbSNP: rs10637374
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000363123 SCV000457603 uncertain significance Stuve-Wiedemann syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001519777 SCV001728706 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001519777 SCV001846139 benign not provided 2019-08-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579419 SCV001807170 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001579419 SCV001958755 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000363123 SCV002084277 benign Stuve-Wiedemann syndrome 2019-09-27 no assertion criteria provided clinical testing

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