ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)

gnomAD frequency: 0.00002  dbSNP: rs772866081
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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 RCV001663558 SCV001880429 uncertain significance not provided 2020-09-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847316 SCV002105062 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538572 SCV003444687 likely benign Spastic paraplegia 2023-03-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832845 SCV002086255 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-05-20 no assertion criteria provided clinical testing

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