ClinVar Miner

Submissions for variant NM_033164.4(FGF8):c.86_103dup (p.Gly29_Arg34dup) (rs762175290)

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Total submissions: 4
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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 Inc RCV000711644 SCV000842030 benign not provided 2018-02-09 criteria provided, single submitter clinical testing
Invitae RCV000711644 SCV001000672 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000711644 SCV001776224 uncertain significance not provided 2019-11-04 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)

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