ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3501G>A (p.Ala1167=)

gnomAD frequency: 0.00003  dbSNP: rs752559933
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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 RCV000568038 SCV000672970 likely benign Hereditary cancer-predisposing syndrome 2017-10-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000868219 SCV001009522 likely benign Bloom syndrome 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000868219 SCV001456899 likely benign Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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