ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.7874-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV003482721 SCV004229702 pathogenic not provided 2022-11-17 criteria provided, single submitter clinical testing This variant is expected to severely impact normal RNA splicing, and consequently, protein structure and/or function. This variant has been identified in at least one individual with clinical features associated with autosomal recessive Schwartz-Jampel syndrome type 1 (SJS1). This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).

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