ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4612A>G (p.Ile1538Val)

gnomAD frequency: 0.00001  dbSNP: rs544249449
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518100 SCV000614957 uncertain significance not specified 2016-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000547323 SCV000629467 likely benign Spastic paraplegia 2025-01-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001275196 SCV002026530 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275196 SCV001460062 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-01-17 no assertion criteria provided clinical testing

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