Submissions for variant NM_000302.4(PLOD1):c.1164C>T (p.Thr388=)

gnomAD frequency: 0.00170  dbSNP: rs74949176

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001579478	SCV000533444	likely benign	not provided	2021-04-26	criteria provided, single submitter	clinical testing
Invitae	RCV000545561	SCV000631688	benign	Ehlers-Danlos syndrome, kyphoscoliotic type 1	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313132	SCV000739521	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-03-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323540	SCV004028576	likely benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579478	SCV001807419	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579478	SCV001969417	likely benign	not provided		no assertion criteria provided	clinical testing