ClinVar Miner

Submissions for variant NM_000044.6(AR):c.1174C>T (p.Pro392Ser) (rs201934623)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UCLA Clinical Genomics Center, UCLA RCV000196772 SCV000255325 pathogenic Partial androgen insensitivity syndrome 2014-07-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000499525 SCV000593280 benign not specified 2016-09-22 criteria provided, single submitter clinical testing
Mendelics RCV000990850 SCV001141898 uncertain significance Androgen resistance syndrome 2019-05-28 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000627669 SCV000746022 uncertain significance Hypospadias 1, X-linked 2018-01-31 no assertion criteria provided clinical testing The observed variant c.1174C>T (p.P392S) has the minor allele frequency of 0.74% in 1000 Genomes and 0.8% in ExAC databases. The in silico predictions of the variant is polymorphism by Mutation Taster, benign by PolyPhen and damaging by SIFT.

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