ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2211G>C (p.Leu737=)

gnomAD frequency: 0.00001  dbSNP: rs933356579
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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 RCV001014805 SCV001175563 likely benign Hereditary cancer-predisposing syndrome 2023-04-27 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.
Illumina Laboratory Services, Illumina RCV001120216 SCV001278689 uncertain significance Bloom syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001120216 SCV001695930 likely benign Bloom syndrome 2024-01-31 criteria provided, single submitter clinical testing

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