ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.3078G>A (p.Ala1026=)

gnomAD frequency: 0.00003  dbSNP: rs760083976
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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 RCV000941581 SCV001087472 likely benign not provided 2023-12-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279650 SCV002566902 uncertain significance Connective tissue disorder 2020-02-01 criteria provided, single submitter clinical testing

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