ClinVar Miner

Submissions for variant NM_004318.4(ASPH):c.758-13dup

dbSNP: rs376027589
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001573890 SCV003245505 benign not provided 2023-10-04 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573890 SCV001800400 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727899 SCV001972975 benign not specified no assertion criteria provided clinical testing

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