ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11380G>T (p.Val3794Phe)

gnomAD frequency: 0.00002  dbSNP: rs753844954
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712957 SCV000843517 uncertain significance not provided 2017-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532941 SCV003501398 benign Spastic paraplegia 2023-07-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825423 SCV002086151 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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