ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.991+80G>T

gnomAD frequency: 0.03281  dbSNP: rs6451387
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001502 SCV001158797 benign Stuve-Wiedemann syndrome 2018-08-06 criteria provided, single submitter clinical testing
GeneDx RCV001692341 SCV001910704 benign not provided 2018-09-01 criteria provided, single submitter clinical testing

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