ClinVar Miner

Submissions for variant NM_001195129.1(PRSS56):c.1795C>G (p.Pro599Ala) (rs61744404)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000454640 SCV000540128 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: Frequency in 1000Genomes: 51/2178=2.34%
OMIM RCV000024074 SCV000045365 pathogenic Microphthalmia, isolated 6 2011-06-01 no assertion criteria provided literature only

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