ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.964T>C (p.Leu322=)

gnomAD frequency: 0.00002  dbSNP: rs1213929853
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001414558 SCV001616697 likely benign not provided 2023-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499474 SCV002798797 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-07-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278691 SCV001465721 uncertain significance Alport syndrome 2020-07-29 no assertion criteria provided clinical testing

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