ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.1886-18C>T

gnomAD frequency: 0.01528  dbSNP: rs3729743
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514770 SCV000609696 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003103999 SCV001477796 benign Stüve-Wiedemann syndrome 1 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000514770 SCV001829656 likely benign not provided 2019-01-02 criteria provided, single submitter clinical testing
Invitae RCV000514770 SCV002406181 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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