ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)

gnomAD frequency: 0.00091  dbSNP: rs145213666
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861435 SCV001001745 likely benign Spastic paraplegia 2024-01-27 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288706 SCV001476016 likely benign not provided 2020-06-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849142 SCV002104992 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277270 SCV001464186 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-01-10 no assertion criteria provided clinical testing

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