ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.2280G>A (p.Leu760=)

gnomAD frequency: 0.00010  dbSNP: rs370455274
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000393817 SCV000345949 uncertain significance not provided 2016-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000393817 SCV001701575 likely benign not provided 2024-03-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828284 SCV002084259 likely benign Stuve-Wiedemann syndrome 2019-10-28 no assertion criteria provided clinical testing

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