ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.143-39C>G

gnomAD frequency: 0.00015  dbSNP: rs62355820
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543897 SCV001762792 benign Stuve-Wiedemann syndrome 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711708 SCV005259842 likely benign not provided criteria provided, single submitter not provided

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