ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.4391A>G (p.Lys1464Arg)

gnomAD frequency: 0.00014  dbSNP: rs147285830
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002253709 SCV001098214 benign KBG syndrome 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000951780 SCV001765330 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253709 SCV002525213 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing

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