ClinVar Miner

Submissions for variant NM_000899.5(KITLG):c.177C>T (p.Pro59=)

gnomAD frequency: 0.00192  dbSNP: rs61924705
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000958408 SCV000717905 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000610940 SCV000966452 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Pro59Pro in exon 3 of KITLG: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.25% (165/66628) o f European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs61924705).
Invitae RCV000958408 SCV001105248 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000958408 SCV004135557 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing KITLG: BP4, BP7

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