Submissions for variant NM_000439.5(PCSK1):c.1197-9C>T

gnomAD frequency: 0.00125  dbSNP: rs200973203

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000385249	SCV000459172	uncertain significance	Obesity due to prohormone convertase I deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000283894	SCV000459173	uncertain significance	Monogenic Non-Syndromic Obesity	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000886542	SCV001030053	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001729558	SCV002069776	benign	not specified	2018-10-19	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001729558	SCV001922792	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000886542	SCV001931094	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003912513	SCV004734766	benign	PCSK1-related disorder	2024-02-26	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).