ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.1563C>G (p.Ser521Arg) (rs41552412)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000343662 SCV000394872 uncertain significance Xeroderma pigmentosum, group F 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000546465 SCV000654057 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2019-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764023 SCV000894976 uncertain significance Xeroderma pigmentosum, group F; XFE progeroid syndrome; Fanconi anemia, complementation group Q 2018-10-31 criteria provided, single submitter clinical testing
ITMI RCV000120826 SCV000084991 not provided not specified 2013-09-19 no assertion provided reference population

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