ClinVar Miner

Submissions for variant NM_133261.3(GIPC3):c.225+11C>T

gnomAD frequency: 0.00351  dbSNP: rs185551765
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155090 SCV000204774 benign not specified 2012-04-30 criteria provided, single submitter clinical testing 225+11C>T in Intron 01 of GIPC3: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence and has been identified in 0.7% (23/3144) of African American chromosomes f rom a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS).
GeneDx RCV001569955 SCV001794130 likely benign not provided 2018-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001569955 SCV002369094 benign not provided 2025-01-19 criteria provided, single submitter clinical testing

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