ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2346A>G (p.Lys782=)

gnomAD frequency: 0.00013  dbSNP: rs199838682
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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 RCV001494478 SCV001699136 likely benign not provided 2023-06-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501696 SCV002810817 likely benign Autosomal recessive Alport syndrome; Benign familial hematuria 2021-11-29 criteria provided, single submitter clinical testing

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