ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2806C>A (p.Gln936Lys)

gnomAD frequency: 0.00024  dbSNP: rs61978562
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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 RCV001288712 SCV001476024 uncertain significance not provided 2019-12-27 criteria provided, single submitter clinical testing
Invitae RCV002069552 SCV002445488 likely benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830102 SCV002086710 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-01-18 no assertion criteria provided clinical testing

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