ClinVar Miner

Submissions for variant NM_014687.4(RUBCN):c.1971C>T (p.Ala657=)

gnomAD frequency: 0.00574  dbSNP: rs148884163
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954905 SCV001101572 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954905 SCV003916873 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing RUBCN: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000954905 SCV005305801 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528917 SCV001741484 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000954905 SCV001968612 likely benign not provided no assertion criteria provided clinical testing

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