ClinVar Miner

Submissions for variant NM_033109.5(PNPT1):c.1923G>A (p.Gln641=)

gnomAD frequency: 0.00001  dbSNP: rs779794474
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
Eurofins Ntd Llc (ga) RCV000733047 SCV000861063 uncertain significance not provided 2018-05-21 criteria provided, single submitter clinical testing
Invitae RCV000733047 SCV002495462 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing

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