ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.11887A>G (p.Met3963Val)

gnomAD frequency: 0.00001  dbSNP: rs375613914
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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 Inc RCV001288697 SCV001476007 uncertain significance not provided 2020-09-03 criteria provided, single submitter clinical testing
Invitae RCV002541789 SCV003298481 likely benign Spastic paraplegia 2023-09-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830099 SCV002086139 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-02-21 no assertion criteria provided clinical testing

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