ClinVar Miner

Submissions for variant NM_033641.4(COL4A6):c.2653G>T (p.Val885Phe)

gnomAD frequency: 0.00129  dbSNP: rs112034997
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513838 SCV000610383 uncertain significance not provided 2017-04-11 criteria provided, single submitter clinical testing
GeneDx RCV000513838 SCV000726552 benign not provided 2019-04-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000513838 SCV002459754 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935349 SCV004749260 likely benign COL4A6-related disorder 2019-06-07 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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