ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) (rs183936286)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514800 SCV000609802 uncertain significance not provided 2017-06-02 criteria provided, single submitter clinical testing
Invitae RCV001088814 SCV000758390 likely benign Joubert syndrome 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001157234 SCV001318785 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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