ClinVar Miner

Submissions for variant NM_000122.2(ERCC3):c.2218-6C>T

gnomAD frequency: 0.00003  dbSNP: rs200733704
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000935765 SCV001081517 benign not provided 2024-12-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001132082 SCV001291734 uncertain significance Xeroderma pigmentosum group B 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.
Sema4, Sema4 RCV002256615 SCV002532624 likely benign Xeroderma pigmentosum 2021-07-01 criteria provided, single submitter curation

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