ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.789A>G (p.Val263=)

gnomAD frequency: 0.00321  dbSNP: rs141925289
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000905762 SCV001050359 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000619 SCV001157616 benign Stuve-Wiedemann syndrome 2019-09-25 criteria provided, single submitter clinical testing
GeneDx RCV000905762 SCV001812750 likely benign not provided 2021-10-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001000619 SCV002084271 likely benign Stuve-Wiedemann syndrome 2019-10-21 no assertion criteria provided clinical testing

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