ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.424_426dup (p.Ser142dup)

dbSNP: rs1591284563
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV001029842 SCV002499986 likely pathogenic Autosomal recessive bestrophinopathy criteria provided, single submitter clinical testing homozygous
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989627 SCV004807314 pathogenic Vitelliform macular dystrophy 2 2024-03-26 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029842 SCV001192628 uncertain significance Autosomal recessive bestrophinopathy 2019-09-06 no assertion criteria provided clinical testing

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