ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3937G>T (p.Glu1313Ter)

dbSNP: rs1555425074
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664850 SCV000788869 likely pathogenic Bloom syndrome 2017-01-09 criteria provided, single submitter clinical testing

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