ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)

dbSNP: rs1555249106
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593641 SCV000700829 likely pathogenic not provided 2017-02-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465330 SCV004209880 likely pathogenic Charlevoix-Saguenay spastic ataxia 2023-10-26 criteria provided, single submitter clinical testing

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