ClinVar Miner

Submissions for variant NM_004183.3(BEST1):c.-373T>A

gnomAD frequency: 0.00757  dbSNP: rs117165769
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000400786 SCV000372688 likely benign Autosomal dominant vitreoretinochoroidopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000291450 SCV000372689 likely benign Vitelliform macular dystrophy 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000339384 SCV000372690 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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