ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs2060993180
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281132 SCV001425034 pathogenic Autosomal recessive Alport syndrome 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 Autosomal dominant Alport syndrome 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.
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) RCV001281132 SCV002558693 likely pathogenic Autosomal recessive Alport syndrome 2022-08-03 criteria provided, single submitter clinical testing ACMG 2015 Criteria: PVS1, PM2, PP3
Fulgent Genetics, Fulgent Genetics RCV005029843 SCV005653622 pathogenic Autosomal recessive Alport syndrome; Hematuria, benign familial, 1 2024-05-21 criteria provided, single submitter clinical testing

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