ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)

gnomAD frequency: 0.00003  dbSNP: rs755172172
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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 RCV001288372 SCV001475437 uncertain significance not provided 2020-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003750861 SCV004519681 likely benign Spastic paraplegia 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836255 SCV002086171 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-03-26 no assertion criteria provided clinical testing

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