ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)

gnomAD frequency: 0.00005  dbSNP: rs754033201
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000805719 SCV000945686 benign Spastic paraplegia 2024-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001287906 SCV001474671 uncertain significance not provided 2019-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001275192 SCV002026513 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275192 SCV001460053 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-01-17 no assertion criteria provided clinical testing

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