ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4522A>C (p.Asn1508His)

dbSNP: rs144653411
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 RCV000992790 SCV001145334 uncertain significance not provided 2019-03-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276947 SCV001463615 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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