ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.2502C>T (p.Ser834=)

gnomAD frequency: 0.00001  dbSNP: rs1408556727
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001468041 SCV001672078 likely benign Kabuki syndrome 2020-10-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004758801 SCV005354920 likely benign KMT2D-related disorder 2024-06-27 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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