ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.2792-1G>T

dbSNP: rs2131845016
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) RCV002272122 SCV002558691 likely pathogenic Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-08-03 criteria provided, single submitter clinical testing PVS1, PM2

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