Submissions for variant NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)

gnomAD frequency: 0.06693  dbSNP: rs12483377

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000248578	SCV000314663	benign	not specified		criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000018655	SCV000745083	benign	Knobloch syndrome	2015-09-21	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711309	SCV000841650	benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
Mendelics	RCV000018655	SCV001141313	likely benign	Knobloch syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000711309	SCV001719504	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000711309	SCV001758268	benign	not provided	2021-02-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 11606364, 15714516, 16115201, 14695535, 15662127, 16807676, 26542764)
Breakthrough Genomics, Breakthrough Genomics	RCV000711309	SCV005207597	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000018655	SCV000038938	pathogenic	Knobloch syndrome	2004-01-01	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000248578	SCV001807232	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000248578	SCV001919384	benign	not specified		no assertion criteria provided	clinical testing