ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2140+6G>A

dbSNP: rs374346618
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231016 SCV000291193 likely benign Aortic aneurysm, familial thoracic 7 2023-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002518361 SCV003547189 uncertain significance Inborn genetic diseases 2021-10-22 criteria provided, single submitter clinical testing The c.2140+6G>A intronic alteration consists of a G to A substitution 6 nucleotides after exon 15 (coding exon 12) of the MYLK gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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