ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser)

gnomAD frequency: 0.00003  dbSNP: rs375898103
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712954 SCV000843514 uncertain significance not provided 2018-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001491310 SCV001695896 likely benign Spastic paraplegia 2024-01-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001273195 SCV002026585 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273195 SCV001455916 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-11 no assertion criteria provided clinical testing

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