ClinVar Miner

Submissions for variant NM_001733.7(C1R):c.336G>C (p.Met112Ile) (rs139531404)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767907 SCV000898554 uncertain significance Ehlers-Danlos syndrome, type 8 2018-04-27 criteria provided, single submitter clinical testing C1R NM_001733.4 exon 5 p.Met112Ile (c.336G>C): This variant has not been reported in the literature but is present in 0.4% (564/121832) of European alleles, including 1 homozygote, in the Genome Aggregation Database ( Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994842 SCV001148631 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing

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