ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.12444G>T (p.Pro4148=)

dbSNP: rs147957197
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002188376 SCV002484166 likely benign not provided 2023-09-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134397 SCV003812586 uncertain significance Kleefstra syndrome 2 2019-09-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002188376 SCV004698544 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing KMT2C: BP4, BP7

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