ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1883-13A>G

gnomAD frequency: 0.00004  dbSNP: rs575410334
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002137089 SCV002418662 likely benign Bloom syndrome 2023-12-19 criteria provided, single submitter clinical testing

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