ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.215_258del (p.Leu72fs)

dbSNP: rs1553408380
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662769 SCV000785568 likely pathogenic Lynch syndrome 5 2017-09-20 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000662769 SCV004187387 pathogenic Lynch syndrome 5 2023-07-28 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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