ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.1623T>C (p.Asn541=)

gnomAD frequency: 0.02405  dbSNP: rs1129352
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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 RCV000246291 SCV000307054 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000466207 SCV000554091 benign Mosaic variegated aneuploidy syndrome 1 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001537598 SCV001754497 benign not provided 2019-04-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316384 SCV004016945 benign Colorectal cancer 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001537598 SCV005296296 benign not provided criteria provided, single submitter not provided
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV005235221 SCV005880618 benign Premature chromatid separation trait 2025-02-01 criteria provided, single submitter clinical testing

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