ClinVar Miner

Submissions for variant NM_000495.5(COL4A5):c.3998-1G>A (rs797045035)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191073 SCV000245465 pathogenic Alport syndrome 1, X-linked recessive 2012-11-30 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory in a 41-year-old female with chronic microhematuria and a family history of suspected Alport syndrome (not tested).

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