ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.13559C>T (p.Pro4520Leu)

gnomAD frequency: 0.00004  dbSNP: rs374531508
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614788 SCV000721824 likely benign not specified 2017-11-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001855221 SCV002254400 benign Kabuki syndrome 2024-03-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010591 SCV005636822 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-04-20 criteria provided, single submitter clinical testing

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