ClinVar Miner

Submissions for variant NM_173551.5(ANKS6):c.772G>C (p.Glu258Gln)

gnomAD frequency: 0.00096  dbSNP: rs200201069
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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 RCV000959687 SCV001106607 likely benign Nephronophthisis 16 2024-12-24 criteria provided, single submitter clinical testing
GeneDx RCV004768750 SCV005378439 uncertain significance not provided 2023-11-21 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003935920 SCV004755522 likely benign ANKS6-related disorder 2023-07-01 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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