ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1066-13G>A

gnomAD frequency: 0.17668  dbSNP: rs13407983
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455933 SCV000540614 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Invitae RCV001522492 SCV001732051 benign Multiple gastrointestinal atresias 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001662414 SCV001872173 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000455933 SCV004233714 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 27% of patients studied by a panel of primary immunodeficiencies. Number of patients: 26. Only high quality variants are reported.

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