ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1917C>T (p.Pro639=)

gnomAD frequency: 0.00004  dbSNP: rs369320502
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000943566 SCV001089516 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489271 SCV002802575 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2022-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827009 SCV002076401 likely benign Alport syndrome 2020-01-19 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003933223 SCV004747625 likely benign COL4A3-related disorder 2019-07-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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