ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1040A>G (p.His347Arg)

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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 RCV002596298 SCV003503739 benign Kabuki syndrome 2023-11-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005011046 SCV005637186 uncertain significance Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-04-23 criteria provided, single submitter clinical testing

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