ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.150G>A (p.Val50=)

gnomAD frequency: 0.00073  dbSNP: rs80133923
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170367 SCV000222782 likely benign not specified 2012-09-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000335795 SCV000362992 likely benign Cockayne syndrome type 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). 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.
Illumina Laboratory Services, Illumina RCV000402991 SCV000362993 likely benign Age related macular degeneration 5 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000314736 SCV000362994 likely benign Cerebrooculofacioskeletal syndrome 1 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000871118 SCV001012723 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000871118 SCV001249005 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing ERCC6: PP3
GeneDx RCV000871118 SCV001781047 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 19894250)

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