ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13463A>G (p.Asn4488Ser)

gnomAD frequency: 0.00004  dbSNP: rs779247029
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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 RCV001336041 SCV001529321 uncertain significance Kabuki syndrome 1 2018-11-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001534524 SCV001751462 likely benign not provided 2021-02-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001871881 SCV002290061 benign Kabuki syndrome 2023-12-25 criteria provided, single submitter clinical testing

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