ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.2066-74T>G

gnomAD frequency: 0.01368  dbSNP: rs113874922
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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 RCV001001559 SCV001158941 benign Stuve-Wiedemann syndrome 2018-09-19 criteria provided, single submitter clinical testing
GeneDx RCV001547608 SCV001767356 likely benign not provided 2019-01-02 criteria provided, single submitter clinical testing

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