ClinVar Miner

Submissions for variant NM_014140.3(SMARCAL1):c.1851+5G>A (rs2066514)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544902 SCV000636841 likely benign Schimke immunoosseous dysplasia 2017-08-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593130 SCV000703955 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000544902 SCV000898989 uncertain significance Schimke immunoosseous dysplasia 2018-11-19 criteria provided, single submitter clinical testing SMARCAL1 NM_014140.3 exon 11 c.1851+5G>A: This variant has not been reported in the literature but is present in 0.3% (84/24022) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/2-217311886-G-A). This variant is present in ClinVar (Variation ID:463146). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools are unclear whether this variant may or may not affect splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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