ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3129C>T (p.Phe1043=)

gnomAD frequency: 0.00001  dbSNP: rs1471724212
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002088373 SCV002388024 likely benign Acrocallosal syndrome 2021-11-17 criteria provided, single submitter clinical testing

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