ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.628-12C>T

gnomAD frequency: 0.00003  dbSNP: rs752105994
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704382 SCV000529014 likely benign not provided 2021-02-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000579695 SCV000685508 likely benign Hereditary cancer-predisposing syndrome 2017-01-04 criteria provided, single submitter clinical testing
Counsyl RCV000663068 SCV000786134 likely benign Lynch syndrome 5 2018-03-02 criteria provided, single submitter clinical testing
Invitae RCV002063373 SCV002381271 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-27 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000663068 SCV004018440 likely benign Lynch syndrome 5 2023-03-27 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493572 SCV004243579 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000464 SCV004816685 likely benign Lynch syndrome 2023-11-30 criteria provided, single submitter clinical testing

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