ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) (rs35224686)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000724734 SCV000149192 likely benign not provided 2021-08-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724734 SCV000231997 uncertain significance not provided 2018-03-21 criteria provided, single submitter clinical testing
Invitae RCV000465434 SCV000555823 benign Bloom syndrome 2020-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575229 SCV000672917 likely benign Hereditary cancer-predisposing syndrome 2018-11-28 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
Mendelics RCV000465434 SCV000838960 uncertain significance Bloom syndrome 2018-07-02 criteria provided, single submitter clinical testing

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