ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.5934C>T (p.Gly1978=)

dbSNP: rs2120554214
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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 RCV002002019 SCV002207713 likely benign Kabuki syndrome 2023-08-04 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224592 SCV003920132 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2022-07-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature and is not present in large control databases. This variant is present in ClinVar (Variation ID:1436140). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant suggests that this variant does not cause disease but requires further evidence. Therefore, this variant is classified as likely benign.

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