ClinVar Miner

Submissions for variant NM_147686.4(TRAF3IP2):c.28G>A (p.Asp10Asn)

gnomAD frequency: 0.09825  dbSNP: rs33980500
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455845 SCV000540582 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
Invitae RCV001514434 SCV001722278 benign Candidiasis, familial, 8 2024-01-31 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000455845 SCV004232758 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 25% of patients studied by a panel of primary immunodeficiencies. Number of patients: 24. Only high quality variants are reported.
OMIM RCV000023605 SCV000044896 risk factor Psoriasis 13, susceptibility to 2013-10-17 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV001824574 SCV002074815 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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