ClinVar Miner

Submissions for variant NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs)

dbSNP: rs371622656
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454683 SCV000539238 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 23.92% East Asian, with 176 homozygotes (VQSRTrancheINDEL99.00to99.50)
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625223 SCV000744183 benign Parkinson disease 11, autosomal dominant, susceptibility to 2015-03-26 criteria provided, single submitter clinical testing
GeneDx RCV001653794 SCV001867606 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625223 SCV000745614 likely benign Parkinson disease 11, autosomal dominant, susceptibility to 2016-04-22 no assertion criteria provided clinical testing

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