Submissions for variant NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe)

dbSNP: rs878853243

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Erez Levanon lab, Bar Ilan University	RCV000225020	SCV000282021	pathogenic	Atrophia bulborum hereditaria	2016-05-01	criteria provided, single submitter	research
Erez Levanon lab, Bar Ilan University	RCV000225062	SCV000282022	pathogenic	Exudative vitreoretinopathy 5	2016-05-01	criteria provided, single submitter	research
Erez Levanon lab, Bar Ilan University	RCV000225079	SCV000282023	pathogenic	Persistent hyperplastic primary vitreous, autosomal recessive	2016-05-01	criteria provided, single submitter	research
GeneDx	RCV003328570	SCV004035660	pathogenic	not provided	2023-05-16	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25250762, 26306921, 30452590, 31456290)
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	RCV000225062	SCV005380248	pathogenic	Exudative vitreoretinopathy 5		criteria provided, single submitter	not provided
Sharon lab, Hadassah-Hebrew University Medical Center	RCV001003234	SCV001161313	likely pathogenic	Familial exudative vitreoretinopathy	2019-06-23	no assertion criteria provided	research