ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9333T>C (p.Asn3111=)

gnomAD frequency: 0.00019  dbSNP: rs150532740
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001087562 SCV001006217 likely benign Spastic paraplegia 2023-11-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000865279 SCV001145352 benign not provided 2018-12-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825723 SCV002086195 likely benign Charlevoix-Saguenay spastic ataxia 2020-03-05 no assertion criteria provided clinical testing

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