ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.9G>T (p.Ala3=)

gnomAD frequency: 0.05938  dbSNP: rs7168394
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246516 SCV000307063 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000459103 SCV000554079 benign Mosaic variegated aneuploidy syndrome 1 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001651155 SCV001862421 benign not provided 2019-04-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316390 SCV004016934 benign Colorectal cancer 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651155 SCV005296278 benign not provided criteria provided, single submitter not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV005235227 SCV005880627 benign Premature chromatid separation trait 2025-02-01 criteria provided, single submitter clinical testing

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