ClinVar Miner

Submissions for variant NM_001197104.2(KMT2A):c.2483C>G (p.Ser828Ter)

dbSNP: rs2134269273
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Genetics Clinic, Sheba Medical Center RCV001788542 SCV001712193 pathogenic Wiedemann-Steiner syndrome 2021-05-13 no assertion criteria provided clinical testing

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