ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4186T>C (p.Leu1396=)

gnomAD frequency: 0.00006  dbSNP: rs376734461
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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 RCV000230545 SCV000283148 likely benign Bloom syndrome 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570192 SCV000672916 likely benign Hereditary cancer-predisposing syndrome 2016-10-05 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477781 SCV004222499 benign not provided 2022-09-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000230545 SCV001461031 likely benign Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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