ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.8471C>T (p.Thr2824Met)

gnomAD frequency: 0.00002  dbSNP: rs780982767
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001785198 SCV002025730 uncertain significance Kleefstra syndrome 2 2020-04-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541229 SCV002962598 benign not provided 2022-12-06 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV001785198 SCV005418885 uncertain significance Kleefstra syndrome 2 criteria provided, single submitter clinical testing PM2

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