ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.16A>C (p.Thr6Pro)

dbSNP: rs28940275
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002851 SCV000023009 pathogenic Vitelliform macular dystrophy 2 2007-08-01 no assertion criteria provided literature only
Retina International RCV000086095 SCV000118239 not provided not provided no assertion provided not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000086095 SCV001979544 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000086095 SCV001980042 pathogenic not provided no assertion criteria provided clinical testing

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