ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys)

gnomAD frequency: 0.00002  dbSNP: rs747013127
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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 RCV000517352 SCV000614922 uncertain significance not provided 2018-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002525070 SCV003255000 likely benign Spastic paraplegia 2024-01-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000517352 SCV005408445 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing PM2_moderate
Natera, Inc. RCV001829472 SCV002086174 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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