ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2721G>A (p.Thr907=)

gnomAD frequency: 0.00004  dbSNP: rs1009065257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000568359 SCV000672973 likely benign Hereditary cancer-predisposing syndrome 2017-08-16 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000628696 SCV000749602 likely benign Bloom syndrome 2023-12-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000628696 SCV002088109 likely benign Bloom syndrome 2018-06-06 no assertion criteria provided clinical testing

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