ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.636C>T (p.His212=)

gnomAD frequency: 0.00002  dbSNP: rs566303918
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250567 SCV000317001 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001425602 SCV001628234 likely benign Acrocallosal syndrome 2023-12-15 criteria provided, single submitter clinical testing
GeneDx RCV000951178 SCV001824391 likely benign not provided 2020-12-21 criteria provided, single submitter clinical testing

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