ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6643T>A (p.Ser2215Thr)

gnomAD frequency: 0.00009  dbSNP: rs200080744
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659739 SCV000781588 likely benign Kabuki syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001682834 SCV001896081 benign not provided 2020-08-03 criteria provided, single submitter clinical testing
Invitae RCV002055353 SCV002372194 likely benign Kabuki syndrome 2024-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001682834 SCV004130775 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing KMT2D: BS1
PreventionGenetics, part of Exact Sciences RCV004542882 SCV004779602 likely benign KMT2D-related disorder 2019-09-09 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).
ITMI RCV000121410 SCV000085598 not provided not specified 2013-09-19 no assertion provided reference population

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