ClinVar Miner

Submissions for variant NM_000862.3(HSD3B1):c.1100C>A (p.Thr367Asn)

gnomAD frequency: 0.76219  dbSNP: rs1047303
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001684992 SCV001903701 benign not provided 2020-07-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31932420)
Desai Sethi Urology Institute, University Of Miami RCV004699172 SCV005201123 drug response Androgen deprivation therapy response 2024-03-01 criteria provided, single submitter clinical testing Slower development of castration-resistant prostate cancer has now been shown in at least 10 cohorts (Hearn, et al. Lancet Oncol. 2016 (PMID:27575027); Hearn, et al. JAMA Oncol. 2018 (PMID:29049492); Agarwal, et al. JAMA Oncol. 2017 (PMID:28208175)) and has shown to result in higher prostate cancer specific mortality rates in a cohort of over 5,000 patients (McKay, et al. JAMA Netw Open. 2024 (PMID:38506808)).
Breakthrough Genomics, Breakthrough Genomics RCV001684992 SCV005281075 benign not provided criteria provided, single submitter not provided

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