ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4132G>T (p.Gly1378Ter)

dbSNP: rs1555425417
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666358 SCV000790637 uncertain significance Bloom syndrome 2017-04-03 criteria provided, single submitter clinical testing

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