ClinVar Miner

Submissions for variant NM_198525.3(KIF7):c.3785G>T (p.Arg1262Leu)

gnomAD frequency: 0.00005  dbSNP: rs561205514
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001323705 SCV001514632 uncertain significance Acrocallosal syndrome 2021-08-27 criteria provided, single submitter clinical testing
Human Disease Genetics and Animal Model Lab, Shanxi University RCV003166892 SCV003838968 not provided not provided 2022-04-30 no assertion provided research By using the RNA injection mediated rescue assay on zebrafish model, we found this variant KIF7 with R1262L substitution could fully rescue the expansion of En2a in kif7 zebrafish null mutant, indicating it is benign in clinical practice.

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