ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.4029+32T>A

gnomAD frequency: 0.98165  dbSNP: rs2501266
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001621365 SCV001846463 benign not provided 2019-03-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702133 SCV001933204 benign Lethal Kniest-like syndrome 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702937 SCV001933205 benign Schwartz-Jampel syndrome 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001621365 SCV005288241 benign not provided criteria provided, single submitter not provided

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