ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3358+32T>G

gnomAD frequency: 0.16733  dbSNP: rs17273842
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244549 SCV000301741 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533505 SCV001750180 benign Bloom syndrome 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001689768 SCV001911049 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001533505 SCV004016376 benign Bloom syndrome 2023-07-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001533505 SCV002090554 benign Bloom syndrome 2018-04-06 no assertion criteria provided clinical testing

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