ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) (rs61733363)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000381296 SCV000332065 benign not specified 2015-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000381296 SCV000730325 likely benign not specified 2018-01-18 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 RCV000956325 SCV001103086 benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003112 SCV001161179 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research
Clinical Genetics,Academic Medical Center RCV000956325 SCV001923460 likely benign not provided no assertion criteria provided clinical testing

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