ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.2886C>T (p.Ala962=)

gnomAD frequency: 0.00010  dbSNP: rs775970749
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000917110 SCV001062378 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832074 SCV002084255 likely benign Stuve-Wiedemann syndrome 2020-12-26 no assertion criteria provided clinical testing

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