Submissions for variant NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu)

gnomAD frequency: 0.23916  dbSNP: rs6234

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000342685	SCV000459160	likely benign	Obesity due to prohormone convertase I deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000397598	SCV000459161	likely benign	Monogenic Non-Syndromic Obesity	2016-06-14	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000730963	SCV000858732	benign	not specified	2017-12-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001672668	SCV001891088	benign	not provided	2021-05-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28271036, 23383060, 25625282, 24932808)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001672668	SCV002425738	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001672668	SCV005223343	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000730963	SCV001978053	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000730963	SCV001979191	benign	not specified		no assertion criteria provided	clinical testing