ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5913C>T (p.Ser1971=)

gnomAD frequency: 0.00021  dbSNP: rs548965753
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001533969 SCV001750851 benign not provided 2021-05-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002071914 SCV002383657 benign Kabuki syndrome 2023-11-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536161 SCV004716883 likely benign KMT2D-related disorder 2023-07-13 no assertion criteria provided 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).

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