ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg)

gnomAD frequency: 0.00002  dbSNP: rs753511073
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV001288698 SCV001476008 uncertain significance not provided 2020-11-12 criteria provided, single submitter clinical testing
Invitae RCV002542995 SCV003005362 benign Spastic paraplegia 2024-01-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835371 SCV002086135 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-02-21 no assertion criteria provided clinical testing

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