ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1039-7A>T

gnomAD frequency: 0.00061  dbSNP: rs1200394799
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000900354 SCV001044669 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-14 criteria provided, single submitter clinical testing
GeneDx RCV001664537 SCV001873746 likely benign not provided 2021-02-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150370 SCV003838868 likely benign Breast and/or ovarian cancer 2021-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004017761 SCV004849060 uncertain significance Hereditary cancer-predisposing syndrome 2015-09-03 criteria provided, single submitter clinical testing The c.1039-7A>T intronic alteration consists of a A to T substitution 7 nucleotides before coding exon 12 in the MLH1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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