Submissions for variant NM_001291415.2(KDM6A):c.149G>A (p.Gly50Asp)

gnomAD frequency: 0.00003  dbSNP: rs923984398

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001800030	SCV002044106	uncertain significance	not provided	2022-03-10	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp	RCV002541333	SCV003476441	likely benign	Kabuki syndrome 2	2022-06-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004988752	SCV005612965	likely benign	Inborn genetic diseases	2024-11-13	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.
Fulgent Genetics, Fulgent Genetics	RCV002541333	SCV005682917	uncertain significance	Kabuki syndrome 2	2024-06-07	criteria provided, single submitter	clinical testing