ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.1818+15_1818+27del

dbSNP: rs60267433
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001677639 SCV001895506 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001677639 SCV002338098 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346646 SCV004049328 benign Lethal Kniest-like syndrome 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003346647 SCV004049329 benign Schwartz-Jampel syndrome type 1 2023-04-11 criteria provided, single submitter clinical testing

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