ClinVar Miner

Submissions for variant NM_133261.3(GIPC3):c.132G>C (p.Ala44=)

gnomAD frequency: 0.00180  dbSNP: rs80060313
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Total submissions: 5
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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 RCV000223629 SCV000270211 likely benign not specified 2015-08-11 criteria provided, single submitter clinical testing p.Ala44Ala in Exon 01 of GIPC3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence. This variant has been identified in 3/31 8 African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs80060313).
Eurofins Ntd Llc (ga) RCV000223629 SCV000860427 likely benign not specified 2018-04-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000898600 SCV001042816 benign not provided 2024-06-13 criteria provided, single submitter clinical testing
GeneDx RCV000898600 SCV001848488 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000898600 SCV005208857 likely benign not provided criteria provided, single submitter not provided

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