ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2182C>G (p.Arg728Gly)

dbSNP: rs752059006
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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 RCV000992782 SCV001145321 uncertain significance not provided 2018-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002550646 SCV003492236 likely benign Spastic paraplegia 2023-07-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277266 SCV001464180 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-01-24 no assertion criteria provided clinical testing

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