ClinVar Miner

Submissions for variant NM_004984.4(KIF5A):c.1311A>G (p.Gln437=)

gnomAD frequency: 0.00001  dbSNP: rs770297402
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994938 SCV001148768 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001430002 SCV001632725 likely benign Spastic paraplegia 2024-04-09 criteria provided, single submitter clinical testing

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