ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.274G>C (p.Val92Leu)

gnomAD frequency: 0.00070  dbSNP: rs200873401
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000891471 SCV001035290 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000891471 SCV001794188 likely benign not provided 2021-04-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487954 SCV002803548 likely benign Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria 2021-11-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930803 SCV004742525 likely benign COL4A3-related disorder 2021-03-25 criteria provided, single submitter 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).
Natera, Inc. RCV001274575 SCV001458831 uncertain significance Alport syndrome 2020-01-24 no assertion criteria provided clinical testing

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