Submissions for variant NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del)

dbSNP: rs1131692232

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	RCV000495893	SCV000583967	pathogenic	8q24.3 microdeletion syndrome	2017-06-07	criteria provided, single submitter	research
Ambry Genetics	RCV000624628	SCV000741065	pathogenic	Inborn genetic diseases	2015-10-08	criteria provided, single submitter	clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	RCV000495893	SCV004009633	likely pathogenic	8q24.3 microdeletion syndrome	2023-05-17	criteria provided, single submitter	research
GeneDx	RCV003314599	SCV004014150	pathogenic	not provided	2023-07-15	criteria provided, single submitter	clinical testing	Not observed in large population cohorts (gnomAD); In-frame deletion of 3 amino acids in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27535533, 36134573, 37303278)
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV000495893	SCV001428361	pathogenic	8q24.3 microdeletion syndrome	2019-01-01	no assertion criteria provided	clinical testing
Molecular Genetics laboratory, Necker Hospital	RCV003314599	SCV004031261	likely pathogenic	not provided	2018-07-09	no assertion criteria provided	clinical testing