ClinVar Miner

Submissions for variant NM_014727.3(KMT2B):c.3000T>C (p.Cys1000=)

gnomAD frequency: 0.01151  dbSNP: rs231595
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973600 SCV001121366 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000973600 SCV001805470 likely benign not provided 2021-04-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000973600 SCV005206995 likely benign not provided criteria provided, single submitter not provided

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