ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1539A>C (p.Pro513=)

gnomAD frequency: 0.00001  dbSNP: rs749945759
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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 RCV000978813 SCV001126747 likely benign not provided 2024-02-17 criteria provided, single submitter clinical testing
GeneDx RCV000978813 SCV001785070 likely benign not provided 2019-02-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503125 SCV002808526 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2022-03-22 criteria provided, single submitter clinical testing

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