ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)

gnomAD frequency: 0.00029  dbSNP: rs137905181
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712994 SCV000843555 uncertain significance not provided 2024-08-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765118 SCV000896340 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001034278 SCV001197616 likely benign Spastic paraplegia 2024-12-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000712994 SCV001713615 uncertain significance not provided 2019-09-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000765118 SCV002026592 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000765118 SCV006058597 uncertain significance Charlevoix-Saguenay spastic ataxia 2022-02-18 criteria provided, single submitter research
Natera, Inc. RCV000765118 SCV001455920 likely benign Charlevoix-Saguenay spastic ataxia 2020-06-16 no assertion criteria provided clinical testing

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