ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1569G>A (p.Pro523=)

gnomAD frequency: 0.00006  dbSNP: rs568575580
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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 RCV001501310 SCV001706117 likely benign Kabuki syndrome 2020-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004758735 SCV005350029 likely benign KMT2D-related disorder 2024-05-14 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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