ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser)

gnomAD frequency: 0.00004  dbSNP: rs376911077
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173778 SCV000224930 uncertain significance not provided 2015-02-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492730 SCV002803226 uncertain significance Kabuki syndrome 1 2021-11-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516599 SCV003512808 benign Kabuki syndrome 2024-11-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000173778 SCV004698354 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing KMT2D: BP4

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