ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2075-12G>T

gnomAD frequency: 0.00541  dbSNP: rs28385027
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500746 SCV000593633 benign not specified 2017-05-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001120215 SCV001278687 benign Bloom syndrome 2018-01-12 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.
Invitae RCV001120215 SCV001731135 benign Bloom syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001682918 SCV001897466 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001120215 SCV002804966 likely benign Bloom syndrome 2022-05-31 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001120215 SCV004016395 benign Bloom syndrome 2023-07-07 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000209148 SCV000264963 likely benign Hereditary cancer-predisposing syndrome 2015-12-01 no assertion criteria provided clinical testing
Natera, Inc. RCV001120215 SCV002088026 benign Bloom syndrome 2018-04-06 no assertion criteria provided clinical testing

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