ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.1827T>A (p.Gly609=)

gnomAD frequency: 0.00003  dbSNP: rs756142410
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001502313 SCV001707142 likely benign not provided 2024-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826344 SCV002081389 likely benign X-linked Alport syndrome 2021-07-02 no assertion criteria provided clinical testing

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