ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.751+15C>T

gnomAD frequency: 0.00241  dbSNP: rs74499462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002142669 SCV002442431 benign Mosaic variegated aneuploidy syndrome 1 2025-02-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508093 SCV002812354 likely benign Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Colorectal cancer 2021-09-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715620 SCV005296287 benign not provided criteria provided, single submitter not provided

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