ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.658C>T (p.Gln220Ter)

dbSNP: rs775283269
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478999 SCV000571767 pathogenic not provided 2021-03-24 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31766397, 30457648)
Institute of Medical Molecular Genetics, University of Zurich RCV000625550 SCV001548054 likely pathogenic Autosomal recessive bestrophinopathy 2021-01-30 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625550 SCV000746045 pathogenic Autosomal recessive bestrophinopathy 2017-09-18 no assertion criteria provided clinical testing

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