ClinVar Miner

Submissions for variant NM_133261.3(GIPC3):c.906C>T (p.Ala302=)

gnomAD frequency: 0.00094  dbSNP: rs140960269
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724934 SCV000332521 uncertain significance not provided 2015-07-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000385111 SCV000711030 benign not specified 2016-11-17 criteria provided, single submitter clinical testing p.Ala302Ala in exon 06 of GIPC3: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.3% (23/6794) of A frican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadi nstitute.org; dbSNP rs140960269).
GeneDx RCV000724934 SCV001858994 benign not provided 2020-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724934 SCV002402536 benign not provided 2024-01-15 criteria provided, single submitter clinical testing

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