ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11886A>G (p.Ile3962Met)

gnomAD frequency: 0.00003  dbSNP: rs1252737332
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
Athena Diagnostics RCV001663546 SCV001880410 uncertain significance not provided 2020-09-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832844 SCV002086140 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-10 no assertion criteria provided clinical testing

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