ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) (rs61757484)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179481 SCV000231736 benign not specified 2014-07-21 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000086212 SCV000281192 likely benign not provided 2015-09-04 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000374765 SCV000405567 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293349 SCV000405568 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348234 SCV000405569 likely benign Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000055938 SCV000764118 benign Leber congenital amaurosis 4 2017-08-25 criteria provided, single submitter clinical testing
GeneReviews RCV000055938 SCV000086961 pathologic Leber congenital amaurosis 4 2013-05-02 no assertion criteria provided curation Converted during submission to Pathogenic.
Retina International RCV000086212 SCV000118356 not provided not provided no assertion provided not provided

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