ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys)

gnomAD frequency: 0.00001  dbSNP: rs778310483
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 RCV001037235 SCV001200639 benign Spastic paraplegia 2023-12-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277477 SCV001464432 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-07-22 no assertion criteria provided clinical testing

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