ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile)

gnomAD frequency: 0.00004  dbSNP: rs200591364
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517432 SCV000614919 uncertain significance not specified 2017-02-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527516 SCV003501394 likely benign Spastic paraplegia 2024-11-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676353 SCV000802127 uncertain significance not provided 2017-10-25 no assertion criteria provided clinical testing
Natera, Inc. RCV001834668 SCV002086185 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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