ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.807C>T (p.Ser269=)

gnomAD frequency: 0.00018  dbSNP: rs147850738
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470963 SCV000555832 likely benign Bloom syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564852 SCV000672904 likely benign Hereditary cancer-predisposing syndrome 2016-12-14 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000470963 SCV000898546 uncertain significance Bloom syndrome 2021-03-30 criteria provided, single submitter clinical testing BLM NM_000057 exon 4 p.Ser269Ser (c.807C>T):This variant has not been reported in the literature but is present in 13/126514 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs147850738). This variant is present in ClinVar (Variation ID:413294). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002475901 SCV002774106 likely benign not provided 2021-08-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000470963 SCV002089975 likely benign Bloom syndrome 2018-05-27 no assertion criteria provided clinical testing

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