ClinVar Miner

Submissions for variant NM_001103146.3(GIGYF2):c.2146A>G (p.Thr716Ala)

dbSNP: rs1700885234
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331630 SCV001523712 uncertain significance Parkinson disease 11, autosomal dominant, susceptibility to 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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