ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu) (rs147013767)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712959 SCV000843519 uncertain significance not provided 2018-08-09 criteria provided, single submitter clinical testing
Invitae RCV001049336 SCV001213382 likely benign Spastic paraplegia 2020-11-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274918 SCV001459472 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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