ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.6938_6939del (p.Phe2313fs)

dbSNP: rs2129119362
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001730174 SCV001977558 pathogenic Kleefstra syndrome 2 2021-10-13 criteria provided, single submitter clinical testing The detected change has not yet been reported in the relevant databases (dbSNP151, gnomAD, ClinVar) or in the literature. It's a frameshift variant in a gene that matches the phenotype of the patient. It's assumed to be a de novo variant (without confirmation of paternity or maternity). The variant is currently to be regarded as a "pathogenic variant" (ACMG criteria).

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