ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.4449C>T (p.His1483=)

gnomAD frequency: 0.00011  dbSNP: rs140672401
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000944433 SCV001090403 likely benign not provided 2023-10-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505401 SCV002810000 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2022-03-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276577 SCV001462976 likely benign Autosomal dominant Alport syndrome 2020-04-24 no assertion criteria provided clinical testing

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