ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.11352+25C>A

gnomAD frequency: 0.18117  dbSNP: rs2270701
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001674409 SCV001887609 benign not provided 2018-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703154 SCV001933145 benign Lethal Kniest-like syndrome 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702957 SCV001933146 benign Schwartz-Jampel syndrome 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001674409 SCV005286214 benign not provided criteria provided, single submitter not provided

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