ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.1991C>T (p.Ser664Leu)

gnomAD frequency: 0.00642  dbSNP: rs3729744
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003103837 SCV000885651 benign Stüve-Wiedemann syndrome 1 2023-11-22 criteria provided, single submitter clinical testing
Invitae RCV000757432 SCV001111019 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000757432 SCV001759479 benign not provided 2021-02-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279519 SCV002566891 likely benign Connective tissue disorder 2019-08-01 criteria provided, single submitter clinical testing

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