ClinVar Miner

Submissions for variant NM_199242.3(UNC13D):c.1992+5G>A

gnomAD frequency: 0.19407  dbSNP: rs17581728
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251534 SCV000317113 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266526 SCV000406661 benign Familial hemophagocytic lymphohistiocytosis 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000251534 SCV000540640 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: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV000266526 SCV001729194 benign Familial hemophagocytic lymphohistiocytosis 3 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000266526 SCV002513991 benign Familial hemophagocytic lymphohistiocytosis 3 2021-12-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000251534 SCV004102380 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 31% of patients studied by a panel of primary immunodeficiencies. Number of patients: 30. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001824716 SCV005252310 benign not provided criteria provided, single submitter not provided
GenomeConnect, ClinGen RCV001824716 SCV002074820 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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