ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1362T>C (p.Asn454=)

dbSNP: rs1156488243
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001275545 SCV001040547 likely benign Bloom syndrome 2023-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382041 SCV002697589 likely benign Hereditary cancer-predisposing syndrome 2022-05-30 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. RCV001275545 SCV001460780 likely benign Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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