ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.764+5G>A

dbSNP: rs1180479579
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197564 SCV001368343 likely pathogenic Multiple gastrointestinal atresias 2019-10-29 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PP4.

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