ClinVar Miner

Submissions for variant NM_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val)

gnomAD frequency: 0.00005  dbSNP: rs748538823
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000198246 SCV000255377 likely pathogenic Parkinson disease 11, autosomal dominant, susceptibility to 2013-04-16 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000198246 SCV001984094 uncertain significance Parkinson disease 11, autosomal dominant, susceptibility to 2020-02-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003430758 SCV004153486 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000198246 SCV005374315 uncertain significance Parkinson disease 11, autosomal dominant, susceptibility to 2024-09-22 criteria provided, single submitter clinical testing

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