ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.15622G>A (p.Val5208Met)

gnomAD frequency: 0.00001  dbSNP: rs756218008
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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 RCV001412691 SCV001614786 likely benign Kabuki syndrome 2024-10-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005005930 SCV005636757 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-05-06 criteria provided, single submitter clinical testing

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