ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) (rs104886164)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000733962 SCV000862070 likely benign not specified 2018-06-28 criteria provided, single submitter clinical testing
Invitae RCV000951685 SCV001098108 benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Mendelics RCV000714314 SCV001141992 benign Alport syndrome 1, X-linked recessive 2019-05-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000714314 SCV001440205 uncertain significance Alport syndrome 1, X-linked recessive 2019-01-01 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000714314 SCV000845004 uncertain significance Alport syndrome 1, X-linked recessive 2018-04-13 no assertion criteria provided literature only
Natera, Inc. RCV000714314 SCV001458772 benign Alport syndrome 1, X-linked recessive 2020-09-16 no assertion criteria provided clinical testing

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