ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3498C>T (p.Ala1166=)

gnomAD frequency: 0.00001  dbSNP: rs754567461
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001481610 SCV001685957 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495716 SCV002794543 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-09-20 criteria provided, single submitter clinical testing

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