Submissions for variant NM_000140.5(FECH):c.163G>T (p.Gly55Cys)

dbSNP: rs3848519

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000000578	SCV000409672	likely benign	Protoporphyria, erythropoietic, 1	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455178	SCV000539170	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 4.7% in South Asian with 37 homozygotes
Mendelics	RCV000000578	SCV001140908	benign	Protoporphyria, erythropoietic, 1	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001517622	SCV001726157	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001517622	SCV002541466	uncertain significance	not provided	2022-06-22	criteria provided, single submitter	clinical testing	BS1
CeGaT Center for Human Genetics Tuebingen	RCV001517622	SCV004143151	benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	FECH: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001517622	SCV005209045	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000000578	SCV000020727	pathogenic	Protoporphyria, erythropoietic, 1	1991-12-16	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001517622	SCV001743797	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000455178	SCV001969367	benign	not specified		no assertion criteria provided	clinical testing