ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln)

dbSNP: rs200088180
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723520 SCV000112054 uncertain significance not provided 2015-01-07 criteria provided, single submitter clinical testing
GeneDx RCV000723520 SCV000728617 benign not provided 2020-04-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29778030, 21607748, 26092435, 23320472, 30459467, 30107592)
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000521303 SCV000781544 uncertain significance Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000339875 SCV001021765 likely benign Kabuki syndrome 2024-01-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000723520 SCV004130827 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing KMT2D: BS1
PreventionGenetics, part of Exact Sciences RCV004542764 SCV004770133 likely benign KMT2D-related disorder 2022-08-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas RCV000521303 SCV000538189 likely pathogenic Kabuki syndrome 1 2017-02-01 no assertion criteria provided clinical testing This variant is identified in a male proband presenting with clinical features of Kabuki syndrome. This variant is maternally inherited. The mother shares some clinical features with the son and she has recently been diagnosed with chronic myelogenous leukemia (CML).

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