ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.13158G>T (p.Leu4386Phe)

gnomAD frequency: 0.00001  dbSNP: rs762380795
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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 RCV001420624 SCV001622948 uncertain significance Kleefstra syndrome 2 2020-06-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001420624 SCV003812614 uncertain significance Kleefstra syndrome 2 2021-04-19 criteria provided, single submitter clinical testing

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