ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1590C>T (p.Ala530=)

gnomAD frequency: 0.00004  dbSNP: rs370951586
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002098995 SCV002431667 likely benign KBG syndrome 2022-06-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004809783 SCV005432472 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing ANKRD11: BP4, BP7

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