ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1740del (p.Thr581fs)

dbSNP: rs1057517432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412340 SCV000487274 likely pathogenic Bloom syndrome 2016-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV000412340 SCV005058136 likely pathogenic Bloom syndrome 2024-01-16 criteria provided, single submitter clinical testing

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