ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1839G>A (p.Gln613=)

gnomAD frequency: 0.02863  dbSNP: rs35840595
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247615 SCV000312152 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000361137 SCV000383373 likely benign Charlevoix-Saguenay spastic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084224 SCV000562820 benign Spastic paraplegia 2025-01-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000247615 SCV001476018 benign not specified 2023-12-13 criteria provided, single submitter clinical testing
GeneDx RCV000676370 SCV001948166 benign not provided 2019-03-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848027 SCV002105000 benign Hereditary spastic paraplegia 2021-11-05 criteria provided, single submitter clinical testing
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research RCV000361137 SCV005061959 likely pathogenic Charlevoix-Saguenay spastic ataxia 2022-01-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV000676370 SCV005219360 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676370 SCV000802146 benign not provided 2017-08-22 no assertion criteria provided clinical testing
Natera, Inc. RCV000361137 SCV001453561 benign Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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