ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.1263C>T (p.Ser421=)

gnomAD frequency: 0.00001  dbSNP: rs1397050342
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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 RCV001429288 SCV001632002 likely benign Acrocallosal syndrome 2023-10-11 criteria provided, single submitter clinical testing

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