ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)

gnomAD frequency: 0.00032  dbSNP: rs61748442
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000086001 SCV000575196 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV001089193 SCV001098320 likely benign Leber congenital amaurosis 7; Cone-rod dystrophy 2 2024-01-18 criteria provided, single submitter clinical testing
Mendelics RCV000990235 SCV001141112 uncertain significance Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001131568 SCV001291195 benign Cone-rod dystrophy 2 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000787829 SCV001291196 uncertain significance Retinitis pigmentosa 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001131569 SCV001291197 uncertain significance Leber congenital amaurosis 7 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000086001 SCV001943555 likely benign not provided 2018-12-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24265693, 16123401, 27884173, 27668495, 26355662)
Retina International RCV000086001 SCV000118144 not provided not provided no assertion provided not provided
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787829 SCV000926842 uncertain significance Retinitis pigmentosa 2018-04-01 no assertion criteria provided research
Faculty of Health Sciences, Beirut Arab University RCV001257854 SCV001434621 pathogenic Autosomal dominant retinitis pigmentosa 2015-09-10 no assertion criteria provided literature only

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