ClinVar Miner

Submissions for variant NM_024989.4(PGAP1):c.2286+5G>A (rs937847069)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000579389 SCV000494622 uncertain significance Mental retardation, autosomal recessive 42 2017-02-14 no assertion criteria provided clinical testing The observed variant c.2286+5G>A (5' splice site) is not reported in 1000 genome and ExAc database. The insilico prediction of the variant is disease-causing by MutationTaster2.

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