ClinVar Miner

Submissions for variant NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs) (rs1554294508)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213238 SCV000276014 pathogenic Hereditary cancer-predisposing syndrome 2015-05-21 criteria provided, single submitter clinical testing Other acmg-defined mutation (i.e. initiation codon or gross deletion)
Invitae RCV000704156 SCV000833094 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-12-13 criteria provided, single submitter clinical testing

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