ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.2523C>T (p.Cys841=)

gnomAD frequency: 0.02415  dbSNP: rs34999621
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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 RCV000250861 SCV000307058 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000473499 SCV000554078 benign Mosaic variegated aneuploidy syndrome 1 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001610612 SCV001840984 benign not provided 2019-04-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316387 SCV004016946 benign Colorectal cancer 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610612 SCV005296304 benign not provided criteria provided, single submitter not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV005235224 SCV005880620 benign Premature chromatid separation trait 2025-02-01 criteria provided, single submitter clinical testing

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