ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) (rs769235753)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000496107 SCV000796029 likely pathogenic Salla disease 2017-11-30 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000496107 SCV000586694 likely pathogenic Salla disease 2016-10-13 no assertion criteria provided clinical testing This variant is not present in the 1000 Genomes database and has a minor allele frequency of less than 0.001% in the ExAC database. This variant is predicted to be damaging by SIFT, LRT, PolyPhen and Mutation Taster.

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