ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.956T>C (p.Leu319Pro)

dbSNP: rs1554963305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817827 SCV005072753 likely pathogenic Retinal dystrophy 2022-01-01 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625673 SCV000746176 pathogenic Autosomal recessive bestrophinopathy 2017-11-06 no assertion criteria provided clinical testing

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