ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1398T>C (p.Asp466=)

gnomAD frequency: 0.00584  dbSNP: rs145833114
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250473 SCV000302060 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710809 SCV000841114 benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000710809 SCV001032295 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000710809 SCV001869794 benign not provided 2019-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273237 SCV001456030 benign Alport syndrome 2020-09-16 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV000250473 SCV003839362 benign not specified 2022-08-29 no assertion criteria provided clinical testing

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