ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.254G>C (p.Arg85Thr) (rs141503266)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000656776 SCV000149204 likely benign not provided 2021-05-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
Invitae RCV000226920 SCV000283124 benign Bloom syndrome 2020-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567093 SCV000672893 likely benign Hereditary cancer-predisposing syndrome 2019-04-28 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
Mendelics RCV000226920 SCV000838944 likely benign Bloom syndrome 2018-07-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000120239 SCV000855432 likely benign not specified 2017-06-30 criteria provided, single submitter clinical testing
ITMI RCV000120239 SCV000084387 not provided not specified 2013-09-19 no assertion provided reference population

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