ClinVar Miner

Submissions for variant NM_015158.5(KANK1):c.3772G>T (p.Ala1258Ser)

gnomAD frequency: 0.00019  dbSNP: rs113362230
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000963228 SCV001110369 likely benign not provided 2023-11-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935966 SCV004754328 likely benign KANK1-related condition 2022-01-25 criteria provided, single submitter 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).
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001257027 SCV001433583 uncertain significance Rare genetic intellectual disability no assertion criteria provided clinical testing

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