Submissions for variant NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup)

dbSNP: rs3032358

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000372316	SCV000344981	benign	not specified	2016-08-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001572937	SCV001895511	benign	not provided	2019-11-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000372316	SCV002066121	benign	not specified	2020-06-18	criteria provided, single submitter	clinical testing
Invitae	RCV002059289	SCV002406140	benign	Androgen resistance syndrome; Kennedy disease	2024-01-31	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV003993919	SCV004812456	benign	Partial androgen insensitivity syndrome	2023-05-04	criteria provided, single submitter	clinical testing	European Non-Finnish population allele frequency is 10.38% (rs78686797, 364/3209 alleles, 0 homozygotes, 3 hemizygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.3.2, this variant is classified as BENIGN. Following criteria are met: BA1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572937	SCV001798069	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000372316	SCV001932205	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000372316	SCV001967165	benign	not specified		no assertion criteria provided	clinical testing