ClinVar Miner

Submissions for variant NM_006502.3(POLH):c.1833A>G (p.Lys611=)

gnomAD frequency: 0.00002  dbSNP: rs748367351
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
Sema4, Sema4 RCV002258732 SCV002536989 likely benign Xeroderma pigmentosum 2021-11-16 criteria provided, single submitter curation
Labcorp Genetics (formerly Invitae), Labcorp RCV003546741 SCV004274224 likely benign not provided 2023-10-20 criteria provided, single submitter clinical testing

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