ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2832A>C (p.Pro944=)

dbSNP: rs751825604
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000349746 SCV000436429 likely benign Knobloch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057775 SCV002323680 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002057775 SCV004146729 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing COL18A1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004549794 SCV004772740 likely benign COL18A1-related disorder 2019-12-19 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).
Breakthrough Genomics, Breakthrough Genomics RCV002057775 SCV005207582 likely benign not provided criteria provided, single submitter not provided

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