ClinVar Miner

Submissions for variant GRCh37/hg19 2q36.3(chr2:227942610-227945265)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Klinikum rechts der Isar RCV001004077 SCV001162801 pathogenic Alport syndrome, autosomal recessive 2018-10-15 criteria provided, single submitter clinical testing

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