ClinVar Miner

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

dbSNP: rs878853243
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Total submissions: 5
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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)
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003234 SCV001161313 likely pathogenic Familial exudative vitreoretinopathy 2019-06-23 no assertion criteria provided research

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