ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13509T>G (p.Thr4503=)

gnomAD frequency: 0.00001  dbSNP: rs745361567
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001495788 SCV001700477 likely benign Spastic paraplegia 2023-07-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277474 SCV001464429 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-11-10 no assertion criteria provided clinical testing

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