ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser)

gnomAD frequency: 0.00002  dbSNP: rs200106708
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 RCV000795635 SCV000935103 likely benign Spastic paraplegia 2024-03-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274926 SCV001459486 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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