ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2160C>T (p.Ile720=)

gnomAD frequency: 0.00303  dbSNP: rs28385028
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123845 SCV000167188 benign not specified 2013-10-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000226091 SCV000283118 benign Bloom syndrome 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000123845 SCV000345294 benign not specified 2016-09-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000226091 SCV000394416 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics RCV000568428 SCV000672890 benign Hereditary cancer-predisposing syndrome 2017-02-17 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237733 SCV002010766 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000123845 SCV002774124 benign not specified 2021-07-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000123845 SCV004222795 likely benign not specified 2023-11-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000226091 SCV002088035 benign Bloom syndrome 2017-08-09 no assertion criteria provided clinical testing

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