ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)

gnomAD frequency: 0.00008  dbSNP: rs150305490
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591165 SCV000704707 uncertain significance not provided 2016-12-22 criteria provided, single submitter clinical testing
Invitae RCV000591165 SCV001097576 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001449946 SCV001653436 likely benign X-linked Alport syndrome 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000591165 SCV001753491 likely benign not provided 2020-02-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000591165 SCV004167394 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing COL4A5: BP4, BS2
Natera, Inc. RCV001449946 SCV002081358 likely benign X-linked Alport syndrome 2019-10-28 no assertion criteria provided clinical testing

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