ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu)

gnomAD frequency: 0.00814  dbSNP: rs2229761
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000383350 SCV000362755 likely benign COFS syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000291244 SCV000362756 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000330020 SCV000362757 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514743 SCV000609876 likely benign not provided 2017-05-30 criteria provided, single submitter clinical testing
Invitae RCV000514743 SCV001005078 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000514743 SCV001818657 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731575 SCV001984156 benign not specified 2020-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487334 SCV002798396 likely benign DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer 2021-08-06 criteria provided, single submitter clinical testing

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