ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.1046G>A (p.Arg349Gln)

gnomAD frequency: 0.72576  dbSNP: rs1801376
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000120431 SCV000538512 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Labcorp Genetics (formerly Invitae), Labcorp RCV001510398 SCV001717421 benign Mosaic variegated aneuploidy syndrome 1 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001510398 SCV001775636 benign Mosaic variegated aneuploidy syndrome 1 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715702 SCV005296288 benign not provided criteria provided, single submitter not provided
ITMI RCV000120431 SCV000084583 not provided not specified 2013-09-19 no assertion provided reference population

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