ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.2139C>T (p.Arg713=)

gnomAD frequency: 0.00021  dbSNP: rs192358829
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000938754 SCV001084577 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925826 SCV004740611 likely benign LIFR-related condition 2019-09-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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