ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)

gnomAD frequency: 0.02418  dbSNP: rs17078601
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254240 SCV000312145 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398344 SCV000383302 likely benign Charlevoix-Saguenay spastic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000456504 SCV000562825 benign Spastic paraplegia 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000254240 SCV001475441 benign not specified 2019-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000398344 SCV001750101 benign Charlevoix-Saguenay spastic ataxia 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000676350 SCV001938935 benign not provided 2018-09-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848026 SCV002104963 benign Hereditary spastic paraplegia 2021-08-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676350 SCV005219339 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676350 SCV000802124 benign not provided 2016-02-22 no assertion criteria provided clinical testing
Natera, Inc. RCV000398344 SCV001459475 benign Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000676350 SCV002036743 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000254240 SCV002037872 benign not specified no assertion criteria provided clinical testing

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