ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala) (rs17078601)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000254240 SCV000312145 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398344 SCV000383302 likely benign Charlevoix-Saguenay spastic ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000456504 SCV000562825 benign Spastic paraplegia 2020-12-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000254240 SCV001475441 benign not specified 2019-11-12 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000398344 SCV001750101 benign Charlevoix-Saguenay spastic ataxia 2021-07-01 criteria provided, single submitter clinical testing
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

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