ClinVar Miner

Submissions for variant NM_016247.4(IMPG2):c.1794C>T (p.Asp598=)

gnomAD frequency: 0.00006  dbSNP: rs371805004
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) RCV000295601 SCV000341384 uncertain significance not provided 2016-05-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000295601 SCV001064063 likely benign not provided 2024-02-27 criteria provided, single submitter clinical testing

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