ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.1974C>T (p.Val658=)

gnomAD frequency: 0.00004  dbSNP: rs762685098
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 RCV000977603 SCV001125522 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278387 SCV001465399 likely benign Stuve-Wiedemann syndrome 2020-08-24 no assertion criteria provided clinical testing

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