ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.2602C>T (p.Leu868=)

gnomAD frequency: 0.00002  dbSNP: rs151090897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593188 SCV000707528 uncertain significance not provided 2017-04-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001474641 SCV001678813 likely benign Acrocallosal syndrome 2022-09-20 criteria provided, single submitter clinical testing

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