ClinVar Miner

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

gnomAD frequency: 0.00151  dbSNP: rs34084584
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Minimum conflict level:
ClinVar version:
Total submissions: 4
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000655352 SCV000777282 benign Progressive myoclonic epilepsy type 5 2024-12-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000387366 SCV001475989 benign not specified 2024-08-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715841 SCV005298690 benign not provided criteria provided, single submitter not provided

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