ClinVar Miner

Submissions for variant NM_001807.6(CEL):c.2026G>T (p.Ala676Ser)

gnomAD frequency: 0.00014  dbSNP: rs529652004
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV001795747 SCV005226021 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795747 SCV002035534 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796934 SCV002038481 benign not specified no assertion criteria provided clinical testing

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