ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.3132T>C (p.Ser1044=)

gnomAD frequency: 0.00004  dbSNP: rs745548189
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 RCV000981187 SCV001129155 likely benign not provided 2023-12-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271677 SCV001452983 uncertain significance Stuve-Wiedemann syndrome 2020-02-13 no assertion criteria provided clinical testing

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