ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.715-18TCC[8]

dbSNP: rs1805182
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152865 SCV000202261 benign not specified 2014-04-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000152865 SCV000310014 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522378 SCV001731910 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001522378 SCV001882289 benign not provided 2015-12-16 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000152865 SCV001744454 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001522378 SCV001966040 likely benign not provided no assertion criteria provided clinical testing

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