ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.1032+17del

dbSNP: rs761615270
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508435 SCV000603151 benign not specified 2016-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515381 SCV001723439 benign not provided 2024-10-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001274532 SCV002802712 likely benign X-linked Alport syndrome 2021-09-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274532 SCV001458768 benign X-linked Alport syndrome 2020-09-16 no assertion criteria provided clinical testing

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