ClinVar Miner

Submissions for variant NM_000044.6(AR):c.173A>T (p.Gln58Leu) (rs200185441)

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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 RCV000455544 SCV000538346 uncertain significance 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: Reported in 2 infertile Finnish men (Lund 2003), one 46, XY child with androgen insensitivity (Akcay 2014), and one individual with hypospadias (Kalfa 2013).
Fulgent Genetics,Fulgent Genetics RCV000766100 SCV000897579 uncertain significance Androgen resistance syndrome; Bulbo-spinal atrophy X-linked; Partial androgen insensitivity syndrome; Hypospadias 1, X-linked; Malignant tumor of prostate 2018-10-31 criteria provided, single submitter clinical testing

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