ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.6323C>T (p.Pro2108Leu)

gnomAD frequency: 0.00004  dbSNP: rs774739665
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001998810 SCV002276819 benign Kabuki syndrome 2024-02-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395335 SCV004130785 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing KMT2D: PP2, BP4, BS2
Fulgent Genetics, Fulgent Genetics RCV005008352 SCV005635973 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-02-07 criteria provided, single submitter clinical testing

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