ClinVar Miner

Submissions for variant NM_017651.4(AHI1):c.3368C>T (rs117447608)

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Total submissions: 6
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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 RCV000444551 SCV000511525 likely benign not provided 2016-09-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081799 SCV000113734 benign not specified 2015-03-02 criteria provided, single submitter clinical testing
GeneDx RCV000081799 SCV000728494 benign not specified 2017-12-13 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 RCV000528711 SCV000634569 benign Joubert syndrome 2017-12-19 criteria provided, single submitter clinical testing
PreventionGenetics RCV000081799 SCV000312890 benign not specified criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000677336 SCV000803606 benign Joubert syndrome 3 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Joubert syndrome, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. BS4 => Lack of segregation in affected members of a family (PMID:16453322).

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