ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1464G>A (p.Pro488=)

gnomAD frequency: 0.00010  dbSNP: rs375352514
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 RCV000866167 SCV001007228 likely benign Spastic paraplegia 2024-05-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278833 SCV001465875 likely benign Charlevoix-Saguenay spastic ataxia 2020-10-21 no assertion criteria provided clinical testing

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