ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5064G>A (p.Gln1688=)

gnomAD frequency: 0.00001  dbSNP: rs760628805
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000868684 SCV001010045 likely benign Spastic paraplegia 2023-12-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275194 SCV001460059 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-01-24 no assertion criteria provided clinical testing

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