ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4072C>A (p.Leu1358Ile) (rs143020337)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000902925 SCV001047368 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000714403 SCV000845094 uncertain significance Alport syndrome 1, X-linked recessive 2018-04-13 no assertion criteria provided literature only
Natera, Inc. RCV001274534 SCV001458776 benign Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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