ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3921C>T (p.Pro1307=)

gnomAD frequency: 0.00003  dbSNP: rs149286215
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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 RCV000628707 SCV000749613 likely benign Bloom syndrome 2024-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021446 SCV001183063 likely benign Hereditary cancer-predisposing syndrome 2019-04-08 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 RCV001821768 SCV002065412 likely benign not specified 2021-06-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000628707 SCV001456909 likely benign Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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