ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2383+9G>C

gnomAD frequency: 0.00001  dbSNP: rs746435134
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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 RCV001429020 SCV001631730 likely benign not provided 2021-06-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501519 SCV002805351 likely benign Autosomal recessive Alport syndrome; Benign familial hematuria 2022-04-27 criteria provided, single submitter clinical testing

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