ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)

gnomAD frequency: 0.00003  dbSNP: rs760976439
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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 RCV000712992 SCV000843552 uncertain significance not provided 2018-08-09 criteria provided, single submitter clinical testing
Invitae RCV000800081 SCV000939780 likely benign Spastic paraplegia 2023-01-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276935 SCV002026501 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276935 SCV001463593 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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