ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1194C>T (p.Asn398=)

gnomAD frequency: 0.00005  dbSNP: rs202103556
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228630 SCV000283110 likely benign Bloom syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000564584 SCV000672958 likely benign Hereditary cancer-predisposing syndrome 2016-12-06 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002478829 SCV002774105 likely benign not provided 2021-08-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955295 SCV004767582 likely benign BLM-related condition 2021-12-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000228630 SCV002090014 likely benign Bloom syndrome 2018-09-27 no assertion criteria provided clinical testing

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