ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.789C>T (p.Asn263=)

gnomAD frequency: 0.00003  dbSNP: rs771920263
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518139 SCV000614980 likely benign not specified 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV000960731 SCV001107745 likely benign Spastic paraplegia 2023-10-13 criteria provided, single submitter clinical testing

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