Submissions for variant NM_000188.3(HK1):c.1443G>A (p.Lys481=)

gnomAD frequency: 0.80224  dbSNP: rs748235

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246647	SCV000302901	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001512136	SCV000603960	benign	not provided	2023-11-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001512136	SCV001719490	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001702379	SCV001933050	benign	Hemolytic anemia due to hexokinase deficiency	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701886	SCV001933051	benign	Neurodevelopmental disorder with visual defects and brain anomalies	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701885	SCV001933053	benign	Charcot-Marie-Tooth disease type 4G	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701954	SCV001933054	benign	Retinitis pigmentosa 79	2021-08-10	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888654	SCV004706911	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV001512136	SCV005318903	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000246647	SCV001924628	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000246647	SCV001962961	benign	not specified		no assertion criteria provided	clinical testing