ClinVar Miner

Submissions for variant NM_005223.4(DNASE1):c.567C>T (p.Gly189=)

gnomAD frequency: 0.00139  dbSNP: rs8175352
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001702987 SCV002497874 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing DNASE1: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001702987 SCV005295885 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702987 SCV001929834 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702987 SCV001964449 likely benign not provided no assertion criteria provided clinical testing

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