ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1515C>T (p.Gly505=)

gnomAD frequency: 0.00003  dbSNP: rs200416402
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001483843 SCV001688250 likely benign not provided 2024-11-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001483843 SCV005436902 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing COL4A3: BP4, BP7
Fulgent Genetics, Fulgent Genetics RCV005023171 SCV005648991 uncertain significance Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive 2024-05-23 criteria provided, single submitter clinical testing

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