ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.1221T>C (p.Asn407=)

gnomAD frequency: 0.00003  dbSNP: rs372077841
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 RCV000943715 SCV001089668 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278388 SCV001465401 likely benign Stuve-Wiedemann syndrome 2020-09-14 no assertion criteria provided clinical testing

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