Submissions for variant NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp)

gnomAD frequency: 0.01260  dbSNP: rs114779238

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000223993	SCV000281014	benign	not provided	2015-08-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000241911	SCV000315734	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000343139	SCV000391087	likely benign	Congenital dyserythropoietic anemia, type I	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000223993	SCV001100762	benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001801545	SCV002048379	likely benign	Anemia, congenital dyserythropoietic, type 1a	2024-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000223993	SCV004136450	benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	CDAN1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000223993	SCV005214543	likely benign	not provided		criteria provided, single submitter	not provided