ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8972G>A (p.Arg2991His)

gnomAD frequency: 0.00084  dbSNP: rs192610957
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV001644612 SCV000614992 benign not specified 2021-03-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765119 SCV000896341 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001085517 SCV001004560 likely benign Spastic paraplegia 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000518535 SCV001148935 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000765119 SCV002026595 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848898 SCV002105110 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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