ClinVar Miner

Submissions for variant NM_213622.4(STAMBP):c.1218+12T>C

gnomAD frequency: 0.21855  dbSNP: rs1025424
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522134 SCV001731612 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001522134 SCV001916376 benign not provided 2018-07-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001522134 SCV005240776 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000147670 SCV000195121 likely benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000147670 SCV001921012 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000147670 SCV001968755 benign not specified no assertion criteria provided clinical testing

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