ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2974C>T (p.Leu992=)

gnomAD frequency: 0.00001  dbSNP: rs867666556
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002130064 SCV002415861 likely benign Acrocallosal syndrome 2022-12-20 criteria provided, single submitter clinical testing

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