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ClinVar Genomic variation as it relates to human health

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NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)

Germline
Top reviewed classifications are shown here.
Reviewed by expert panel
Pathogenic
Sep 2013 by International …
Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

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Text-mined citations for rs63750451 ...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 29, 2024