ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2040G>C (p.Gly680=)

gnomAD frequency: 0.00001  dbSNP: rs776512229
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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 RCV001471754 SCV001675870 likely benign not provided 2023-09-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488276 SCV002796761 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-10-06 criteria provided, single submitter clinical testing

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