ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1817_1820del (p.Asp606fs)

dbSNP: rs1555419980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668805 SCV000793468 likely pathogenic Bloom syndrome 2017-08-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000668805 SCV002022046 likely pathogenic Bloom syndrome 2021-01-12 criteria provided, single submitter clinical testing

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