ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.868-99G>T

dbSNP: rs195158
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001553903 SCV001774996 benign Vitelliform macular dystrophy 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553904 SCV001774997 benign Retinitis pigmentosa 50 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001553905 SCV001774998 benign Autosomal recessive bestrophinopathy 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554230 SCV001775460 benign Autosomal dominant vitreoretinochoroidopathy 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001647427 SCV001858105 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001647427 SCV005317375 benign not provided criteria provided, single submitter not provided

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