ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) (rs141010716)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242863 SCV000310863 likely benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000242863 SCV000538553 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: Variant has been reported in unknown number of patients with XL congenital stationary night blindness (Weleber 2002 - from abstract, full text not available). MAF 0.6%, 6 hem in ExAC. Status PASS, but relatively poorly covered (51/9104 Eur chr).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726719 SCV000702415 uncertain significance not provided 2016-11-29 criteria provided, single submitter clinical testing
Invitae RCV000726719 SCV001024791 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000990822 SCV001141867 uncertain significance Congenital stationary night blindness, type 2A 2019-05-28 criteria provided, single submitter clinical testing

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