ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1191G>C (p.Gly397=) (rs780393464)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538376 SCV000623223 likely benign Bloom syndrome 2019-12-31 criteria provided, single submitter clinical testing

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