ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln)

gnomAD frequency: 0.01756  dbSNP: rs34162630
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454995 SCV000538554 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 180/10956=1.64%
Eurofins Ntd Llc (ga) RCV000454995 SCV000854867 benign not specified 2017-08-04 criteria provided, single submitter clinical testing
Mendelics RCV000990823 SCV001141868 likely benign Congenital stationary night blindness 2A 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000999427 SCV001156036 likely benign not provided 2018-01-01 criteria provided, single submitter clinical testing
Invitae RCV000999427 SCV001727747 benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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