ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg)

gnomAD frequency: 0.00001  dbSNP: rs758654165
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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 RCV000516989 SCV000614993 uncertain significance not specified 2017-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002525076 SCV003264319 likely benign Spastic paraplegia 2023-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829476 SCV002086200 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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