ClinVar Miner

Submissions for variant NM_017946.4(FKBP14):c.197+5_197+8del

dbSNP: rs747353360
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000148990 SCV004806807 likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type, 2 2024-03-26 criteria provided, single submitter clinical testing
OMIM RCV000148990 SCV000196038 pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type, 2 2014-11-01 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000148990 SCV001469247 pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type, 2 2020-10-11 no assertion criteria provided clinical testing

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