ClinVar Miner

Submissions for variant NM_000565.4(IL6R):c.1073A>C (p.Asp358Ala)

gnomAD frequency: 0.31732  dbSNP: rs2228145
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514924 SCV001722888 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003488341 SCV004233773 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 82% of patients studied by a panel of primary immunodeficiencies. Number of patients: 72. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001514924 SCV005279956 benign not provided criteria provided, single submitter not provided
OMIM RCV000015767 SCV000036032 association Soluble interleukin-6 receptor, serum level of, quantitative trait locus 2007-04-01 no assertion criteria provided literature only
OMIM RCV000029243 SCV000051889 association Interleukin 6, serum level of, quantitative trait locus 2007-04-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003974830 SCV004800774 benign IL6R-related disorder 2019-10-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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