ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11049T>C (p.Asn3683=)

gnomAD frequency: 0.00004  dbSNP: rs773770705
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000973335 SCV001121087 likely benign Spastic paraplegia 2024-01-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001664583 SCV001880405 benign not specified 2020-10-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847118 SCV002104964 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832214 SCV002086163 likely benign Charlevoix-Saguenay spastic ataxia 2021-02-26 no assertion criteria provided clinical testing

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