ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.798+5G>A (rs1296613540)

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Total submissions: 1
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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 RCV000576313 SCV000678223 uncertain significance Ehlers-Danlos syndrome, classic type 2017-08-01 criteria provided, single submitter clinical testing COL5A2 NM_000393.3 (c.798+5G>A): This variant has not been reported in the literature and is not present in large control databases. The identified variant is an intronic variant and no predicted change in the amino acid sequence but may have an unknown effect on 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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