ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.884G>A (p.Ser295Asn) (rs63750144)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075908 SCV000106925 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Variant allele results in splicing abberation leading to premature stop codon: full inactivation of variant allele
Ambry Genetics RCV000215143 SCV000277766 pathogenic Hereditary cancer-predisposing syndrome 2015-08-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Functionally-validated splicing mutation,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Last nucleotide of exon,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes)

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