ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.1782A>G (p.Glu594=)

gnomAD frequency: 0.00004  dbSNP: rs370489388
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000928158 SCV001073765 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000928158 SCV001765375 likely benign not provided 2020-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489229 SCV002809067 likely benign Autosomal recessive Alport syndrome; Benign familial hematuria 2021-07-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274056 SCV001457784 uncertain significance Alport syndrome 2020-03-10 no assertion criteria provided clinical testing

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