ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.3178G>T (p.Gly1060Ter) (rs104886217)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health: University of Minnesota RCV000021478 SCV000889955 pathogenic Alport syndrome 1, X-linked recessive 2017-10-18 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021478 SCV000042144 pathogenic Alport syndrome 1, X-linked recessive 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Pathogenic.

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