ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe)

gnomAD frequency: 0.00043  dbSNP: rs148060787
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000357304 SCV000372799 likely benign Autosomal dominant vitreoretinochoroidopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000262526 SCV000372800 likely benign Vitelliform macular dystrophy 2 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298984 SCV000372801 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000272476 SCV000483289 likely benign Iron Overload 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000086094 SCV000891967 likely benign not provided 2018-09-01 criteria provided, single submitter clinical testing
Invitae RCV000086094 SCV001212744 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001103575 SCV001260351 likely benign Retinitis pigmentosa 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Retina International RCV000086094 SCV000118238 not provided not provided no assertion provided not provided

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