ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.204C>T (p.Thr68=)

gnomAD frequency: 0.00001  dbSNP: rs199927688
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628700 SCV000749606 benign Bloom syndrome 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014239 SCV001174924 likely benign Hereditary cancer-predisposing syndrome 2019-05-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genetic Services Laboratory, University of Chicago RCV001821767 SCV002068256 likely benign not specified 2019-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000628700 SCV002089898 likely benign Bloom syndrome 2017-11-16 no assertion criteria provided clinical testing

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