ClinVar Miner

Submissions for variant NM_004628.5(XPC):c.*192T>C

gnomAD frequency: 0.01085  dbSNP: rs3731178
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000327424 SCV000441358 likely benign Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000299770 SCV000484034 likely benign Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001149012 SCV001309937 likely benign Xeroderma pigmentosum, group C 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.
GeneDx RCV001538920 SCV001756639 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing

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