ClinVar Miner

Submissions for variant NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=)

gnomAD frequency: 0.02268  dbSNP: rs11544970
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247426 SCV000314651 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000371942 SCV000436424 benign Knobloch syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000371942 SCV000745077 likely benign Knobloch syndrome 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520483 SCV001729591 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001520483 SCV002575338 likely benign not provided 2021-05-04 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV001520483 SCV005207578 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000371942 SCV000745792 benign Knobloch syndrome 2017-01-23 no assertion criteria provided clinical testing

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