ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.472G>A (p.Ala158Thr) (rs61748445)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178122 SCV000230126 benign not specified 2014-09-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000178122 SCV000305361 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390414 SCV000413937 likely benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308806 SCV000413938 likely benign Retinitis Pigmentosa, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347317 SCV000413939 likely benign Cone-Rod Dystrophy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000086004 SCV000658612 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Retina International RCV000086004 SCV000118147 not provided not provided no assertion provided not provided

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