ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7463C>T (p.Ser2488Leu)

gnomAD frequency: 0.00004  dbSNP: rs779629382
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336049 SCV001529330 uncertain significance Kabuki syndrome 1 2018-04-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001865842 SCV002203029 benign Kabuki syndrome 2022-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002546757 SCV003558496 likely benign Inborn genetic diseases 2021-12-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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