ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3994A>G (p.Thr1332Ala)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003342394 SCV004060499 likely benign Inborn genetic diseases 2023-08-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV003588898 SCV004290949 benign Kabuki syndrome 2024-04-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005012889 SCV005636036 uncertain significance Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-05-18 criteria provided, single submitter clinical testing

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