ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10256G>A (p.Arg3419His)

gnomAD frequency: 0.00004  dbSNP: rs536675517
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663543 SCV001880401 uncertain significance not provided 2020-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538571 SCV003284589 benign Spastic paraplegia 2023-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827567 SCV002086180 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-03-19 no assertion criteria provided clinical testing

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