ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.1493-8C>T

dbSNP: rs184337406
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000890493 SCV001034239 likely benign not provided 2023-12-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000890493 SCV001150895 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing SRCAP: BP4, BS1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000890493 SCV002036166 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000890493 SCV002038042 likely benign not provided no assertion criteria provided clinical testing

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