ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2941C>T (p.Leu981=)

gnomAD frequency: 0.00001  dbSNP: rs1166900434
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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 RCV001500599 SCV001705391 likely benign Acrocallosal syndrome 2018-03-13 criteria provided, single submitter clinical testing

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