ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.1575C>T (p.Asp525=)

dbSNP: rs367724066
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000900546 SCV001044870 likely benign not provided 2025-01-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001796811 SCV005726501 likely benign not specified 2024-11-12 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000900546 SCV002036505 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001796811 SCV002037308 benign not specified no assertion criteria provided clinical testing

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