ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.714_715inv (p.Val239Ile)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000400055 SCV000363474 uncertain significance H syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000400055 SCV000644963 benign H syndrome 2024-02-01 criteria provided, single submitter clinical testing
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261569 SCV001438836 benign not specified criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV001261569 SCV004102222 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 94% of patients studied by a panel of primary immunodeficiencies. Number of patients: 90. Only high quality variants are reported.
GenomeConnect, ClinGen RCV001824726 SCV002074753 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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