ClinVar Miner

Submissions for variant NM_012338.4(TSPAN12):c.612+1G>T

dbSNP: rs2116347776
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002251293 SCV002521889 likely pathogenic Exudative vitreoretinopathy 5 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function. The predicted truncated protein may be shortened by more than 10%. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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