ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)

gnomAD frequency: 0.00001  dbSNP: rs1443000762
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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 RCV000676367 SCV001476814 uncertain significance not provided 2019-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531379 SCV003255501 likely benign Spastic paraplegia 2024-01-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676367 SCV000802143 uncertain significance not provided 2018-03-19 no assertion criteria provided clinical testing
Natera, Inc. RCV001830473 SCV002086694 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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