ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4521_4522del (p.Asn1508fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466309 SCV004209879 likely pathogenic Charlevoix-Saguenay spastic ataxia 2023-10-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003466309 SCV005634300 likely pathogenic Charlevoix-Saguenay spastic ataxia 2024-05-18 criteria provided, single submitter clinical testing

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