ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) (rs73559947)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176416 SCV000228071 likely benign not specified 2015-04-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000176416 SCV000312886 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000176416 SCV000727204 likely benign not specified 2018-02-07 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 RCV000860892 SCV001001069 likely benign Joubert syndrome 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001151591 SCV001312725 likely benign Joubert syndrome 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252128 SCV001427878 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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