ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn)

gnomAD frequency: 0.00002  dbSNP: rs763496360
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000822535 SCV000963344 likely benign Spastic paraplegia 2023-12-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276944 SCV001463611 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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