Submissions for variant NM_000096.4(CP):c.3182-4A>G

gnomAD frequency: 0.00805  dbSNP: rs34272112

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000343452	SCV000441613	likely benign	Deficiency of ferroxidase	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000376274	SCV000484044	likely benign	Hermansky-Pudlak syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000343452	SCV000760126	benign	Deficiency of ferroxidase	2025-01-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001560095	SCV001782435	likely benign	not provided	2020-10-28	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001560095	SCV005260893	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116822	SCV000150896	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001560095	SCV001808959	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000116822	SCV001963975	benign	not specified		no assertion criteria provided	clinical testing