ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.4900G>C (p.Ala1634Pro)

gnomAD frequency: 0.00001  dbSNP: rs767489857
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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 RCV001887043 SCV002159744 benign Kabuki syndrome 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005006162 SCV005636016 uncertain significance Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-06-18 criteria provided, single submitter clinical testing

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