ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1917A>G (p.Ala639=)

gnomAD frequency: 0.00084  dbSNP: rs138457742
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000710204 SCV000341033 uncertain significance not provided 2016-05-13 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001283505 SCV000614944 benign not specified 2019-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078709 SCV001005614 benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001782774 SCV002026674 benign Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing

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