ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.159T>C (p.Phe53=)

gnomAD frequency: 0.00001  dbSNP: rs1217941846
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 RCV000924087 SCV001069591 likely benign not provided 2023-06-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832085 SCV002076369 likely benign Alport syndrome 2020-11-17 no assertion criteria provided clinical testing

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