ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2544A>G (p.Val848=)

gnomAD frequency: 0.17069  dbSNP: rs3739099
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001517686 SCV001726240 benign Multiple gastrointestinal atresias 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001712928 SCV001942228 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840814 SCV002100191 benign Gastrointestinal defects and immunodeficiency syndrome 1 2021-09-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487367 SCV004233513 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 40% of patients studied by a panel of primary immunodeficiencies. Number of patients: 38. Only high quality variants are reported.

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