ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.227-10C>T

gnomAD frequency: 0.00058  dbSNP: rs201226457
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000887491 SCV001031048 benign KBG syndrome 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001683689 SCV001905344 benign not provided 2020-12-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000887491 SCV002524219 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing

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