ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.145C>A (p.Pro49Thr)

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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 RCV003588093 SCV004280759 benign Kabuki syndrome 2024-10-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005013016 SCV005637217 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-03-21 criteria provided, single submitter clinical testing

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