ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.978G>T (p.Val326=) (rs61752907)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000261103 SCV000343539 likely benign not specified 2016-08-23 criteria provided, single submitter clinical testing
Counsyl RCV000671895 SCV000796928 likely benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2018-01-04 criteria provided, single submitter clinical testing
Invitae RCV000671895 SCV001021570 benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001100476 SCV001256998 uncertain significance Leber congenital amaurosis 2 2017-12-28 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001100477 SCV001256999 likely benign Retinitis pigmentosa 2017-12-28 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.
Retina International RCV000085236 SCV000117373 not provided not provided no assertion provided not provided

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