ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1197G>A (p.Lys399=) (rs757730609)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163177 SCV000213698 likely benign Hereditary cancer-predisposing syndrome 2014-10-10 criteria provided, single submitter clinical testing
Invitae RCV001083265 SCV000285050 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000163177 SCV000686104 likely benign Hereditary cancer-predisposing syndrome 2016-04-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000855624 SCV000697283 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000590214 SCV000884401 likely benign not provided 2017-09-16 criteria provided, single submitter clinical testing The c.1197G>A; p.Lys399Lys variant (rs757730609) does not alter the amino acid sequence of the PMS2 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with any hereditary cancer syndromes in the medical literature or in gene specific variation databases. This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.02 percent in the European Non-Finnish population (identified on 19 out of 125,472 chromosomes), and has been reported to the ClinVar database as a likely benign variant (Variation ID: 184060). Based on these observations, the p.Lys399Lys variant is likely to be benign.
True Health Diagnostics RCV000163177 SCV000788099 likely benign Hereditary cancer-predisposing syndrome 2017-09-13 no assertion criteria provided clinical testing

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