ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.1722G>A (p.Ser574=)

gnomAD frequency: 0.00008  dbSNP: rs200521119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000941465 SCV001087352 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489264 SCV002801084 likely benign Stüve-Wiedemann syndrome 1 2021-12-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271680 SCV001452991 likely benign Stuve-Wiedemann syndrome 2020-01-12 no assertion criteria provided clinical testing

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