ClinVar Miner

Submissions for variant NM_000380.4(XPA):c.390-13A>C

gnomAD frequency: 0.00004  dbSNP: rs373762653
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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 RCV000321214 SCV000475593 uncertain significance Xeroderma pigmentosum 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524578 SCV003521107 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002524578 SCV005195484 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003957859 SCV004781418 likely benign XPA-related disorder 2019-09-06 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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