ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1038G>A (p.Glu346=)

gnomAD frequency: 0.00001  dbSNP: rs1181692024
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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 RCV001490338 SCV001694899 likely benign Bloom syndrome 2023-11-07 criteria provided, single submitter clinical testing

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