ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3237C>T (p.Asp1079=)

gnomAD frequency: 0.00002  dbSNP: rs148237075
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732828 SCV000860820 uncertain significance not provided 2018-04-27 criteria provided, single submitter clinical testing
Invitae RCV001078554 SCV001064290 likely benign Bloom syndrome 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019348 SCV001180695 likely benign Hereditary cancer-predisposing syndrome 2019-11-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Natera, Inc. RCV001078554 SCV002090530 likely benign Bloom syndrome 2018-11-06 no assertion criteria provided clinical testing

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