ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2136G>A (p.Glu712=)

gnomAD frequency: 0.00001  dbSNP: rs772511828
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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 RCV002540808 SCV001055071 likely benign Acrocallosal syndrome 2022-09-19 criteria provided, single submitter clinical testing

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