ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3210+10G>T

gnomAD frequency: 0.00001  dbSNP: rs765057634
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628703 SCV000749609 likely benign Bloom syndrome 2024-05-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953104 SCV004777925 likely benign BLM-related disorder 2023-09-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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