ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.1566_1576dup (p.His526delinsProTer)

dbSNP: rs1389863115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780683 SCV002022038 likely pathogenic not provided 2021-04-19 criteria provided, single submitter clinical testing
DBGen Ocular Genomics RCV003389499 SCV004101697 pathogenic Stargardt disease 2023-01-01 criteria provided, single submitter clinical testing Class 5 ACMG Guidelines, 2015 (PMID:25741868)

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