ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)

gnomAD frequency: 0.00001  dbSNP: rs200437752
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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 Inc RCV000712964 SCV000843524 uncertain significance not provided 2018-03-30 criteria provided, single submitter clinical testing
Invitae RCV000812548 SCV000952866 likely benign Spastic paraplegia 2023-07-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001784351 SCV002026541 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001784351 SCV002086730 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-04-20 no assertion criteria provided clinical testing

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