ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.348G>A (p.Lys116=)

dbSNP: rs749535664
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001447095 SCV001650154 likely benign Bloom syndrome 2023-09-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454109 SCV002612827 likely benign Hereditary cancer-predisposing syndrome 2022-04-21 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.
Natera, Inc. RCV001447095 SCV002089916 likely benign Bloom syndrome 2020-10-05 no assertion criteria provided clinical testing

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