ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.8543del (p.Asn2848fs)

dbSNP: rs2093235396
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335515 SCV001528680 pathogenic Kleefstra syndrome 1 2018-04-30 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Laboratory of Genetics, Children's Clinical University Hospital Latvia RCV004731129 SCV005044926 pathogenic KMT2C-related NDD criteria provided, single submitter research
Baylor Genetics RCV004557543 SCV005049331 pathogenic Kleefstra syndrome 2 2024-03-11 criteria provided, single submitter clinical testing

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