ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.580G>A (p.Val194Ile)

dbSNP: rs749989473
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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 RCV001330981 SCV001522860 uncertain significance Autosomal dominant Alport syndrome 2019-07-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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