ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser)

gnomAD frequency: 0.00001  dbSNP: rs1288769278
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 RCV001287915 SCV001474680 uncertain significance not provided 2020-06-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830093 SCV002086218 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-01-17 no assertion criteria provided clinical testing

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