ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5413G>A (p.Val1805Ile)

dbSNP: rs151288302
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001086606 SCV001019375 likely benign KBG syndrome 2024-11-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000876760 SCV001143022 benign not provided 2018-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000876760 SCV001909394 benign not provided 2021-04-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001086606 SCV002525199 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948250 SCV004759502 likely benign ANKRD11-related disorder 2024-05-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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