ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.3570T>A (p.Gly1190=)

dbSNP: rs1575931307
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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 RCV002132946 SCV002436812 likely benign not provided 2023-08-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508075 SCV002813594 likely benign Autosomal recessive Alport syndrome; Benign familial hematuria 2021-12-16 criteria provided, single submitter clinical testing

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