ClinVar Miner

Submissions for variant NM_198859.4(PRICKLE2):c.1035C>G (p.Gly345=)

gnomAD frequency: 0.00151  dbSNP: rs34084584
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000387366 SCV000341340 benign not specified 2016-05-11 criteria provided, single submitter clinical testing
Invitae RCV000655352 SCV000777282 benign Progressive myoclonic epilepsy type 5 2023-12-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000387366 SCV001475989 benign not specified 2020-08-12 criteria provided, single submitter clinical testing

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