ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.807C>T (p.Ser269=) (rs147850738)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564852 SCV000672904 likely benign Hereditary cancer-predisposing syndrome 2016-12-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000470963 SCV000898546 uncertain significance Bloom syndrome 2017-12-18 criteria provided, single submitter clinical testing BLM NM_000057.3 exon 4 p.Ser269= (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.
Invitae RCV000470963 SCV000555832 likely benign Bloom syndrome 2017-12-25 criteria provided, single submitter clinical testing

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