ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2824-7A>G

dbSNP: rs374616797
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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 RCV000462152 SCV000555831 likely benign Bloom syndrome 2024-11-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000462152 SCV001461109 uncertain significance Bloom syndrome 2019-02-03 no assertion criteria provided clinical testing

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