ClinVar Miner

Submissions for variant NM_003597.5(KLF11):c.225C>T (p.Val75=)

gnomAD frequency: 0.00158  dbSNP: rs144083374
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757764 SCV002005957 likely benign not provided 2021-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503245 SCV002807546 likely benign Maturity-onset diabetes of the young type 7 2021-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001757764 SCV004447663 benign not provided 2024-11-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001757764 SCV005260612 likely benign not provided criteria provided, single submitter not provided

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