ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp)

gnomAD frequency: 0.00017  dbSNP: rs149018756
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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 RCV000518824 SCV000614969 uncertain significance not specified 2016-09-13 criteria provided, single submitter clinical testing
Invitae RCV002060257 SCV002465427 likely benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276939 SCV001463604 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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