ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3264C>T (p.Leu1088=)

gnomAD frequency: 0.00056  dbSNP: rs138764398
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734379 SCV000862514 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing
Invitae RCV001423785 SCV001626369 likely benign Acrocallosal syndrome 2021-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000734379 SCV001784601 likely benign not provided 2021-06-03 criteria provided, single submitter clinical testing

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