ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2173G>A (p.Gly725Ser)

gnomAD frequency: 0.00069  dbSNP: rs150227461
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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 RCV000981640 SCV001129618 likely benign Acrocallosal syndrome 2024-01-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001573893 SCV005213960 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573893 SCV001800410 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573893 SCV001967280 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003906108 SCV004718969 likely benign KIF7-related disorder 2022-03-30 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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