ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1387C>A (p.His463Asn)

gnomAD frequency: 0.00004  dbSNP: rs149951538
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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 RCV001288707 SCV001476017 uncertain significance not provided 2020-08-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588736 SCV004283482 likely benign Spastic paraplegia 2023-06-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830100 SCV002086738 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-03 no assertion criteria provided clinical testing

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