ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu)

gnomAD frequency: 0.00007  dbSNP: rs370095300
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516945 SCV000614970 uncertain significance not provided 2018-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527521 SCV003257931 likely benign Spastic paraplegia 2023-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276938 SCV001463602 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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