ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.2538+8T>G

gnomAD frequency: 0.00002  dbSNP: rs377005699
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088931 SCV001007070 likely benign Spastic paraplegia 2023-08-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000866030 SCV001145745 benign not provided 2018-10-29 criteria provided, single submitter clinical testing

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