ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1310C>T (p.Thr437Met)

gnomAD frequency: 0.00002  dbSNP: rs199657817
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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 RCV000992777 SCV001145314 uncertain significance not provided 2018-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002550644 SCV003448485 benign Spastic paraplegia 2023-12-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832304 SCV002086740 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-21 no assertion criteria provided clinical testing

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