ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.2673+3G>A

gnomAD frequency: 0.04106  dbSNP: rs41312124
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152910 SCV000202337 benign not specified 2013-11-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000152910 SCV000310864 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000835628 SCV000977425 benign not provided 2018-05-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000835628 SCV001720828 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554451 SCV001775696 benign Ocular albinism, type II 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554452 SCV001775697 benign X-linked cone-rod dystrophy 3 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554453 SCV001775698 benign Congenital stationary night blindness 2A 2021-07-14 criteria provided, single submitter clinical testing

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