ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.800-120T>C

dbSNP: rs7183841
Minimum review status: Collection method:
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001533490 SCV001750158 benign Bloom syndrome 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001712974 SCV001939294 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712974 SCV005295460 benign not provided criteria provided, single submitter not provided

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