ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.1372G>C (p.Gly458Arg) (rs757341933)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517256 SCV000612941 likely pathogenic not provided 2017-06-27 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763078 SCV000893590 likely pathogenic Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive; Benign familial hematuria 2018-10-31 criteria provided, single submitter clinical testing

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