ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)

gnomAD frequency: 0.00002  dbSNP: rs376188585
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507814 SCV001713613 uncertain significance not provided 2020-03-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001507814 SCV001880407 uncertain significance not provided 2020-10-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785821 SCV002027682 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847284 SCV002104967 uncertain significance Hereditary spastic paraplegia 2018-12-01 criteria provided, single submitter clinical testing
Invitae RCV001865926 SCV002151774 likely benign Spastic paraplegia 2023-11-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001785821 SCV002086157 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-07-07 no assertion criteria provided clinical testing

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