ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3192A>T (p.Thr1064=)

gnomAD frequency: 0.00007  dbSNP: rs574281511
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249287 SCV000316989 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058474 SCV002461531 likely benign Acrocallosal syndrome 2023-11-10 criteria provided, single submitter clinical testing

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