ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1175T>G (p.Leu392Arg)

dbSNP: rs794727106
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174603 SCV000225925 uncertain significance not provided 2015-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362708 SCV004084744 uncertain significance Inborn genetic diseases 2023-07-17 criteria provided, single submitter clinical testing The c.1175T>G (p.L392R) alteration is located in exon 13 (coding exon 12) of the CEP290 gene. This alteration results from a T to G substitution at nucleotide position 1175, causing the leucine (L) at amino acid position 392 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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