ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.324C>G (p.Ser108Arg)

dbSNP: rs1565388478
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP RCV000721106 SCV000747137 uncertain significance Vitelliform macular dystrophy 2 2018-05-07 criteria provided, single submitter clinical testing The p.(Ser108Arg) variant in BEST1 has been reported in a single Italian patient affected by Best vitelliform macular dystrophy (BVMD). Application of ACMG guidelines: PM2, absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium; BP4, multiple lines of computational evidence suggest no impact or gene or gene product (conservation, evolutionary, splicing impact, etc.). The variation has been classified as variant of uncertain significance.
Sharon lab, Hadassah-Hebrew University Medical Center RCV000721106 SCV001160923 pathogenic Vitelliform macular dystrophy 2 2019-06-23 no assertion criteria provided research

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