Submissions for variant NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup)

dbSNP: rs762175290

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Muenke lab, National Institutes of Health	RCV000656430	SCV000746222	uncertain significance	Holoprosencephaly sequence	2018-04-20	criteria provided, single submitter	research	While absent from public databases, this may be due to technical issues. At least 3 un-related probands (and one transmitting healthy parent) are positive for this missense change. Experimentally normal with ACMG criteria: BS3;PM2. No predictions for indel effects are given.
Athena Diagnostics	RCV000711644	SCV000842030	benign	not provided	2018-02-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000711644	SCV001000672	likely benign	not provided	2025-01-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000711644	SCV001776224	uncertain significance	not provided	2023-10-20	criteria provided, single submitter	clinical testing	In-frame insertion of 6 amino acids in a non-repeat region; This variant is associated with the following publications: (PMID: 25131394, 26857713)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003619716	SCV004563157	likely benign	Hypogonadotropic hypogonadism 6 with or without anosmia	2023-11-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003928148	SCV004745732	likely benign	FGF8-related disorder	2021-03-17	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).