ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) (rs1801256)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115309 SCV000149218 likely benign not specified 2017-12-22 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.
Invitae RCV000168286 SCV000218963 benign Bloom syndrome 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000115309 SCV000301743 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726338 SCV000343878 uncertain significance not provided 2016-09-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000115309 SCV000593638 likely benign not specified 2019-01-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564629 SCV000672875 likely benign Hereditary cancer-predisposing syndrome 2018-11-06 criteria provided, single submitter clinical testing Insufficient evidence;Co-occurence with mutation in same gene (phase unknown);In silico models in agreement (benign)
Mendelics RCV000168286 SCV000838986 uncertain significance Bloom syndrome 2018-07-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000168286 SCV001275192 uncertain significance Bloom syndrome 2017-06-09 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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