ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.2986T>C (p.Ser996Pro)

dbSNP: rs1949992868
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001542394 SCV001761092 uncertain significance Wiedemann-Steiner syndrome 2020-06-19 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003234078 SCV003932147 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing PM2, PP2

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