ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.3657-16C>G

gnomAD frequency: 0.00230  dbSNP: rs139310195
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812519 SCV002049000 benign not provided 2021-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001812519 SCV002425192 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503293 SCV002809658 likely benign Lethal Kniest-like syndrome; Schwartz-Jampel syndrome type 1 2022-04-05 criteria provided, single submitter clinical testing

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