ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1498G>A (p.Val500Ile)

dbSNP: rs1244967438
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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 Inc RCV000992780 SCV001145317 uncertain significance not provided 2018-10-04 criteria provided, single submitter clinical testing
Invitae RCV002550645 SCV003467019 likely benign Spastic paraplegia 2023-05-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827138 SCV002086735 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-03-27 no assertion criteria provided clinical testing

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