ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser)

gnomAD frequency: 0.00525  dbSNP: rs78239814
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000676359 SCV000614976 benign not provided 2018-10-30 criteria provided, single submitter clinical testing
Invitae RCV001085314 SCV000754274 benign Spastic paraplegia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000676359 SCV001786278 likely benign not provided 2019-10-20 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676359 SCV000802135 uncertain significance not provided 2016-02-29 no assertion criteria provided clinical testing
Natera, Inc. RCV001275188 SCV001460045 likely benign Charlevoix-Saguenay spastic ataxia 2020-06-09 no assertion criteria provided clinical testing

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