ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.11992+23G>A

gnomAD frequency: 0.14776  dbSNP: rs12023794
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756255 SCV000884005 benign not specified 2018-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001615048 SCV001833453 benign not provided 2018-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702714 SCV001933140 benign Lethal Kniest-like syndrome 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703237 SCV001933142 benign Schwartz-Jampel syndrome 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615048 SCV005286207 benign not provided criteria provided, single submitter not provided

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