ClinVar Miner

Submissions for variant NM_020738.4(KIDINS220):c.2151G>A (p.Ser717=)

gnomAD frequency: 0.00005  dbSNP: rs765237146
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000932056 SCV001077734 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970577 SCV004784023 likely benign KIDINS220-related disorder 2021-07-21 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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