ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3906C>A (p.Ser1302=)

dbSNP: rs2151199747
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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 RCV002219829 SCV002377491 likely benign Bloom syndrome 2022-11-28 criteria provided, single submitter clinical testing

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