ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4755+18A>G

gnomAD frequency: 0.00009  dbSNP: rs553695911
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550842 SCV001771237 likely benign not provided 2020-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001550842 SCV002483418 benign not provided 2024-11-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506655 SCV002808497 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2022-02-22 criteria provided, single submitter clinical testing

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