ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.710G>T (p.Arg237Leu)

dbSNP: rs529571444
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510832 SCV001717973 benign Acrocallosal syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001569789 SCV001793939 likely benign not provided 2021-06-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501756 SCV002805262 likely benign Acrocallosal syndrome; Multiple epiphyseal dysplasia, Al-Gazali type; Hydrolethalus syndrome 2 2022-04-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900757 SCV004726807 likely benign KIF7-related disorder 2022-07-06 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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