ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.514G>A (p.Asp172Asn)

gnomAD frequency: 0.00004  dbSNP: rs377575924
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002479225 SCV002787169 uncertain significance Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2022-02-08 criteria provided, single submitter clinical testing
Invitae RCV002552021 SCV003523638 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029786 SCV001192565 uncertain significance Autosomal dominant Alport syndrome 2019-05-28 no assertion criteria provided clinical testing

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