ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.735+2T>C (rs2060993180)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281132 SCV001425034 pathogenic Alport syndrome, autosomal recessive 2020-02-01 criteria provided, single submitter research
(GEEPAD) Grupo de Estudio de la Enfermedad Poliquística Autosómica Dominante, Hospitales Universitarios Virgen de las Nieves y San Cecilio (Granada) RCV001290438 SCV001478447 likely pathogenic Alport syndrome 3, autosomal dominant 2021-02-08 criteria provided, single submitter clinical testing This variant is a transition of thymine by cytosine in splicing site at intronic region 12 two position before start codificant region at exon 12 . Using ACMG criteria (PVS1, PM2, PP3) we clasified it like likely pathogenic variant.

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