ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.2637G>A (p.Pro879=)

gnomAD frequency: 0.00005  dbSNP: rs755312698
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001392330 SCV001593972 likely benign not provided 2024-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499825 SCV002812585 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2022-02-11 criteria provided, single submitter clinical testing

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