ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.222G>A (p.Pro74=)

dbSNP: rs187950806
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000928570 SCV001074182 likely benign not provided 2024-03-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489232 SCV002802904 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-12-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000928570 SCV004151539 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing COL4A3: BP4, BP7
Natera, Inc. RCV001272222 SCV001453997 likely benign Alport syndrome 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003970552 SCV004777471 likely benign COL4A3-related disorder 2020-01-15 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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