ClinVar Miner

Submissions for variant NM_001142784.3(IL11RA):c.128C>T (p.Ser43Phe)

gnomAD frequency: 0.00615  dbSNP: rs76429508
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455775 SCV000539354 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: High allele frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV000963231 SCV001110372 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000963231 SCV001804840 likely benign not provided 2020-09-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21741611)
Breakthrough Genomics, Breakthrough Genomics RCV000963231 SCV005226349 likely benign not provided criteria provided, single submitter not provided

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