ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.2034G>A (p.Ser678=)

gnomAD frequency: 0.09488  dbSNP: rs3739100
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522715 SCV001732308 benign Multiple gastrointestinal atresias 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001619927 SCV001843768 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840815 SCV002100180 benign Gastrointestinal defects and immunodeficiency syndrome 1 2021-09-10 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487416 SCV004233717 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.
Breakthrough Genomics, Breakthrough Genomics RCV001619927 SCV005241280 benign not provided criteria provided, single submitter not provided

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