ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7838C>T (p.Pro2613Leu)

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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 RCV002606673 SCV003503209 benign Kabuki syndrome 2025-01-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005011047 SCV005636496 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-05-13 criteria provided, single submitter clinical testing

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