ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.6133+19T>C

gnomAD frequency: 0.03837  dbSNP: rs36080251
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001643859 SCV001856048 benign not provided 2018-08-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703145 SCV001933193 benign Lethal Kniest-like syndrome 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703144 SCV001933194 benign Schwartz-Jampel syndrome 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001643859 SCV002495447 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001643859 SCV005288221 benign not provided criteria provided, single submitter not provided

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