ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly)

gnomAD frequency: 0.00003  dbSNP: rs1170997950
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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 RCV000992776 SCV001145312 uncertain significance not provided 2019-07-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003750836 SCV004402653 likely benign Spastic paraplegia 2023-10-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827137 SCV002086153 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-11-03 no assertion criteria provided clinical testing

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