ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8922A>G (p.Leu2974=)

gnomAD frequency: 0.00001  dbSNP: rs563864403
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 RCV000867085 SCV001008278 benign Spastic paraplegia 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273198 SCV001455921 likely benign Charlevoix-Saguenay spastic ataxia 2020-01-14 no assertion criteria provided clinical testing

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