ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.798G>A (p.Glu266=)

gnomAD frequency: 0.17316  dbSNP: rs17480869
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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 RCV001515085 SCV001723080 benign Multiple gastrointestinal atresias 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001647306 SCV001861582 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487342 SCV004233670 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 29% of patients studied by a panel of primary immunodeficiencies. Number of patients: 28. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001647306 SCV005241230 benign not provided criteria provided, single submitter not provided
GenomeConnect, ClinGen RCV001647306 SCV002074819 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.

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