ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.959+17A>G

gnomAD frequency: 0.00001  dbSNP: rs1263627625
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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 RCV002076138 SCV002428438 likely benign Bloom syndrome 2023-09-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002076138 SCV002796496 likely benign Bloom syndrome 2022-02-15 criteria provided, single submitter clinical testing

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