ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2598A>T (p.Val866=) (rs574053990)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457154 SCV000555836 likely benign Bloom syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561199 SCV000672972 likely benign Hereditary cancer-predisposing syndrome 2017-06-20 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)

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