ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.1919+98G>A

gnomAD frequency: 0.26226  dbSNP: rs12712986
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001688469 SCV001908840 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487707 SCV004233406 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 47% of patients studied by a panel of primary immunodeficiencies. Number of patients: 45. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001688469 SCV005241264 benign not provided criteria provided, single submitter not provided

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