ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7519C>T (p.Gln2507Ter)

dbSNP: rs572878194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333694 SCV001526354 pathogenic KBG syndrome 2018-09-14 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Laboratory of Human Genetics, Universidade de São Paulo RCV001333694 SCV002506521 pathogenic KBG syndrome 2022-03-16 criteria provided, single submitter research This variant meets our criteria to be classified as pathogenic based upon segregation studies, low frequency in control samples, and in-silico evaluation of pathogenicity.

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