Submissions for variant NM_000132.4(F8):c.1508G>A (p.Arg503His)

gnomAD frequency: 0.00563  dbSNP: rs35383156

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Coagulation Factor Deficiency Variant Curation Expert Panel, Clingen	RCV000991025	SCV004363671	benign	Hereditary factor VIII deficiency disease	2024-02-01	reviewed by expert panel	curation	The c.1508G>A (p.Arg503His) variant is reported at an MAF of 0.01797(342/19037 alleles) in the African/African-American population in gnomAD v2.1.1 with 94 hemizygotes and 3 homozygotes, meeting BA1 criteria of MAF >0.000333. In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Coagulation Factor Deficiency Variant Curation Expert Panel for F8/F9: BA1.
Illumina Laboratory Services, Illumina	RCV000991025	SCV000482101	likely benign	Hereditary factor VIII deficiency disease	2017-04-28	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861315	SCV001001590	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000991025	SCV001142127	benign	Hereditary factor VIII deficiency disease	2019-05-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000861315	SCV001477534	benign	not provided	2023-05-19	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502412	SCV002810075	likely benign	Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to factor 8 defect	2022-04-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000861315	SCV004701318	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	F8: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003902449	SCV004724701	likely benign	F8-related disorder	2022-05-27	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).