ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.15C>T (p.Tyr5=)

gnomAD frequency: 0.00003  dbSNP: rs778287994
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000943992 SCV001089952 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832170 SCV002084280 likely benign Stuve-Wiedemann syndrome 2021-07-07 no assertion criteria provided clinical testing

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