ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.147T>G (p.Ala49=)

gnomAD frequency: 0.00005  dbSNP: rs879807300
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000646 SCV001157670 likely benign Stuve-Wiedemann syndrome 2019-02-26 criteria provided, single submitter clinical testing
Invitae RCV001417152 SCV001619349 likely benign not provided 2023-08-18 criteria provided, single submitter clinical testing

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