ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.318A>C (p.Ser106=)

dbSNP: rs2151147103
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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 RCV001470447 SCV001674542 likely benign Bloom syndrome 2020-07-08 criteria provided, single submitter clinical testing

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